Elevated serum creatine phosphokinase

Symptom Information:

Symptom ID: HPO:0003236
Synonyms:
Elevated blood creatine phosphokinase [HPO:0003236]
Elevated circulating creatine phosphokinase [HPO:0003236]
Elevated creatine kinase [HPO:0003236]
Elevated serum CPK [HPO:0003236]
Elevated serum creatine kinase [HPO:0003236]
High serum creatine kinase [HPO:0003236]
Increased creatine kinase [HPO:0003236]
Increased creatine phosphokinase [HPO:0003236]
Increased creatine phosphokinase (CPK) [HPO:0003236]
Increased serum CK [HPO:0003236]
Increased serum creatine kinase [HPO:0003236]
Increased serum creatine phosphokinase [HPO:0003236]
Creatine kinase plasma abnormality [Orphanet:44450]
Finding of creatine kinase level (finding) [Orphanet:44450]
Blood creatine phosphokinase abnormal [Orphanet:44450]
Plasma creatine phosphokinase abnormal [Orphanet:44450]
Finding of creatine kinase level [Orphanet:44450]
Elevated blood creatine phosphokinase [OMIM:Elevated blood creatine phosphokinase]
Elevated circulating creatine phosphokinase [OMIM:Elevated circulating creatine phosphokinase]
Elevated creatine kinase [OMIM:Elevated creatine kinase]
Elevated serum CPK [OMIM:Elevated serum CPK]
Elevated serum creatine kinase [OMIM:Elevated serum creatine kinase]
Elevated serum creatine phosphokinase [OMIM:Elevated serum creatine phosphokinase]
High serum creatine kinase [OMIM:High serum creatine kinase]
Increased creatine kinase [OMIM:Increased creatine kinase]
Increased creatine phosphokinase (CPK) [OMIM:Increased creatine phosphokinase (CPK)]
Increased serum creatine kinase [OMIM:Increased serum creatine kinase]
Abnormal muscle biopsy/muscle enzymes/CPK/LDH/aldolase/creatin phosphokinase [Orphanet:44450]
Blood creatine phosphokinase abnormal [MedDRA:10005468]
Blood creatine phosphokinase abnormal NOS [MedDRA:10005468]
Plasma creatine phosphokinase abnormal [MedDRA:10005468]
Serum creatine phosphokinase abnormal [MedDRA:10005468]
Creatine phosphokinase abnormal [MedDRA:10005468]
Elevated serum creatine phosphokinase (CPK) [OMIM:Elevated serum creatine phosphokinase (CPK)]
Increased creatine kinase (CK) [OMIM:Increased creatine kinase (CK)]
Increased serum creatine kinase (1 family) [OMIM:Increased serum creatine kinase (1 family)]
Increased serum creatine kinase (1 patient) [OMIM:Increased serum creatine kinase (1 patient)]
Increased serum creatine kinase (less common) [OMIM:Increased serum creatine kinase (less common)]
Aldolase abnormal [MedDRA:10069154]
Aldolase plasma value abnormality [Orphanet:44450]
Aldolase abnormal [Orphanet:44450]
Biopsy muscle abnormal [MedDRA:10004803]
Muscle biopsy anomaly [Orphanet:44450]
Biopsy muscle abnormal [Orphanet:44450]
Muscle biopsy abnormal [OMIM:Muscle biopsy abnormal]
Plasma lactate dehydrogenase abnormal [MedDRA:10035342]
Lactate dehydrogenase plasma value abnormality [Orphanet:44450]
Plasma lactate dehydrogenase abnormal [Orphanet:44450]
Increased serum creatine kinase during episodes [OMIM,du]
Quality:
Cross references:
Orphanet:44450 "Abnormal muscle biopsy/muscle enzymes/CPK/LDH/aldolase/creatin phosphokinase" [Orphanet:44450]
OMIM: "Elevated blood creatine phosphokinase" [OMIM:Elevated blood creatine phosphokinase]
OMIM: "Elevated circulating creatine phosphokinase" [OMIM:Elevated circulating creatine phosphokinase]
OMIM: "Elevated creatine kinase" [OMIM:Elevated creatine kinase]
OMIM: "Elevated serum CPK" [OMIM:Elevated serum CPK]
OMIM: "Elevated serum creatine kinase" [OMIM:Elevated serum creatine kinase]
OMIM: "Elevated serum creatine phosphokinase" [OMIM:Elevated serum creatine phosphokinase]
OMIM: "High serum creatine kinase" [OMIM:High serum creatine kinase]
OMIM: "Increased creatine kinase" [OMIM:Increased creatine kinase]
OMIM: "Increased creatine phosphokinase (CPK)" [OMIM:Increased creatine phosphokinase (CPK)]
OMIM: "Increased serum creatine kinase" [OMIM:Increased serum creatine kinase]
OMIM: "Elevated serum creatine phosphokinase (CPK)" [OMIM:Elevated serum creatine phosphokinase (CPK)]
OMIM: "Increased creatine kinase (CK)" [OMIM:Increased creatine kinase (CK)]
OMIM: "Increased serum creatine kinase (1 family)" [OMIM:Increased serum creatine kinase (1 family)]
OMIM: "Increased serum creatine kinase (1 patient)" [OMIM:Increased serum creatine kinase (1 patient)]
OMIM: "Increased serum creatine kinase (less common)" [OMIM:Increased serum creatine kinase (less common)]
OMIM: "Muscle biopsy abnormal" [OMIM:Muscle biopsy abnormal]
UMLS:C0853782 "Blood creatine phosphokinase abnormal" [Orphanet:44450]
UMLS:C0858061 "Plasma creatine phosphokinase abnormal" [Orphanet:44450]
UMLS:C0750863 "Finding of creatine kinase level" [Orphanet:44450]
UMLS:C2609169 "Aldolase abnormal" [Orphanet:44450]
UMLS:C0853441 "Biopsy muscle abnormal" [Orphanet:44450]
UMLS:C0858070 "Plasma lactate dehydrogenase abnormal" [Orphanet:44450]
Is a (Direct Parents):
HPO         Highly elevated creatine phosphokinase
HPO         Extremely elevated creatine phosphokinase
HPO         Abnormality of circulating enzyme level
Orphanet Muscle anomalies
MedDRA Skeletal and cardiac muscle analyses
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of circulating protein level(HPO:0010876)
             Abnormality of circulating enzyme level(HPO:0011021)
                Elevated serum creatine phosphokinase(HPO:0003236)
MedDRA:
Investigations(MedDRA:10022891)
    Enzyme investigations NEC(MedDRA:10014938)
       Skeletal and cardiac muscle analyses(MedDRA:10040768)
          Elevated serum creatine phosphokinase(HPO:0003236)
Database Frequency: 214 / 7739
Resource:

All diseases associated with this symptom:

AXIAL OSTEOMALACIA (OMIM:109130)
Adult-onset dystonia-parkinsonism (Orphanet:199351)
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (Orphanet:329314)
Alpha-crystallinopathy (Orphanet:98910)
Autosomal dominant Emery-Dreifuss muscular dystrophy (Orphanet:98853)
Autosomal dominant congenital benign spinal muscular atrophy (Orphanet:1216)
Autosomal dominant limb-girdle muscular dystrophy type 1A (Orphanet:266)
Autosomal dominant limb-girdle muscular dystrophy type 1B (Orphanet:264)
Autosomal dominant limb-girdle muscular dystrophy type 1C (Orphanet:265)
Autosomal dominant limb-girdle muscular dystrophy type 1D (Orphanet:34516)
Autosomal dominant limb-girdle muscular dystrophy type 1G (Orphanet:55596)
Autosomal dominant limb-girdle muscular dystrophy type 1H (Orphanet:238755)
Autosomal dominant myoglobinuria (Orphanet:99846)
Autosomal recessive Emery-Dreifuss muscular dystrophy (Orphanet:98855)
Autosomal recessive axonal neuropathy with neuromyotonia (Orphanet:324442)
Autosomal recessive limb girdle muscular dystrophy type 2A (Orphanet:267)
Autosomal recessive limb-girdle muscular dystrophy type 2B (Orphanet:268)
Autosomal recessive limb-girdle muscular dystrophy type 2C (Orphanet:353)
Autosomal recessive limb-girdle muscular dystrophy type 2D (Orphanet:62)
Autosomal recessive limb-girdle muscular dystrophy type 2E (Orphanet:119)
Autosomal recessive limb-girdle muscular dystrophy type 2F (Orphanet:219)
Autosomal recessive limb-girdle muscular dystrophy type 2G (Orphanet:34514)
Autosomal recessive limb-girdle muscular dystrophy type 2H (Orphanet:1878)
Autosomal recessive limb-girdle muscular dystrophy type 2I (Orphanet:34515)
Autosomal recessive limb-girdle muscular dystrophy type 2J (Orphanet:140922)
Autosomal recessive limb-girdle muscular dystrophy type 2K (Orphanet:86812)
Autosomal recessive limb-girdle muscular dystrophy type 2L (Orphanet:206549)
Autosomal recessive limb-girdle muscular dystrophy type 2M (Orphanet:206554)
Autosomal recessive limb-girdle muscular dystrophy type 2N (Orphanet:206559)
Autosomal recessive limb-girdle muscular dystrophy type 2O (Orphanet:206564)
Autosomal recessive limb-girdle muscular dystrophy type 2P (Orphanet:280333)
Autosomal recessive limb-girdle muscular dystrophy type 2Q (Orphanet:254361)
Autosomal recessive limb-girdle muscular dystrophy type 2S (Orphanet:369840)
Autosomal recessive limb-girdle muscular dystrophy type 2T (Orphanet:363623)
Autosomal recessive progressive external ophthalmoplegia (Orphanet:254886)
B4GALT1-CDG (Orphanet:79332)
Becker muscular dystrophy (Orphanet:98895)
Bethlem myopathy (Orphanet:610)
COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
COG8-CDG (Orphanet:95428)
CRAMPS, FAMILIAL ADOLESCENT (OMIM:218050)
CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Cardiomyopathy, dilated, 1II (OMIM:615184)
Cardiomyopathy, dilated, 1L (OMIM:606685)
Cardiomyopathy, dilated, 1X (OMIM:611615)
Cardiomyopathy, dilated, 3B (OMIM:302045)
Carnitine palmitoyl transferase 1A deficiency (Orphanet:156)
Carnitine palmitoyl transferase II deficiency, severe infantile form (Orphanet:228305)
Carnitine uptake deficiency (Orphanet:158)
Carnitine-acylcarnitine translocase deficiency (Orphanet:159)
Choreoacanthocytosis (Orphanet:2388)
Congenital muscular dystrophy due to LMNA mutation (Orphanet:157973)
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect (Orphanet:280671)
Congenital muscular dystrophy type 1A (Orphanet:258)
Congenital muscular dystrophy type 1B (Orphanet:98893)
Congenital muscular dystrophy with cerebellar involvement (Orphanet:370959)
Congenital muscular dystrophy with integrin alpha-7 deficiency (Orphanet:34520)
Congenital muscular dystrophy with intellectual disability and severe epilepsy (Orphanet:329178)
DK1-CDG (Orphanet:91131)
DPM1-CDG (Orphanet:79322)
DPM3-CDG (Orphanet:263494)
Dent disease type 2 (Orphanet:93623)
Dimethylglycine dehydrogenase deficiency (Orphanet:243343)
Distal myopathy with anterior tibial onset (Orphanet:178400)
Distal myopathy with early respiratory muscle involvement (Orphanet:34521)
Distal myopathy with vocal cord weakness (Orphanet:600)
Distal myopathy, Nonaka type (Orphanet:602)
Duchenne muscular dystrophy (Orphanet:98896)
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT (OMIM:612998)
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3 (OMIM:600969)
Early-onset myopathy with fatal cardiomyopathy (Orphanet:289377)
Emery-Dreifuss muscular dystrophy (Orphanet:261)
Episodic ataxia type 1 (Orphanet:37612)
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Facioscapulohumeral dystrophy (Orphanet:269)
Familial isolated dilated cardiomyopathy (Orphanet:154)
Familial partial lipodystrophy, Dunnigan type (Orphanet:2348)
Fatal infantile hypertonic myofibrillar myopathy (Orphanet:280553)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (Orphanet:168566)
Fetal akinesia-cerebral and retinal hemorrhage syndrome (Orphanet:363409)
Generalized congenital lipodystrophy with myopathy (Orphanet:228429)
Genetic recurrent myoglobinuria (Orphanet:99845)
Glycogen storage disease due to LAMP-2 deficiency (Orphanet:34587)
Glycogen storage disease due to acid maltase deficiency (Orphanet:365)
Glycogen storage disease due to acid maltase deficiency, infantile onset (Orphanet:308552)
Glycogen storage disease due to acid maltase deficiency, late-onset (Orphanet:420429)
Glycogen storage disease due to glycogen debranching enzyme deficiency (Orphanet:366)
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (Orphanet:284426)
Glycogen storage disease due to lactate dehydrogenase deficiency (Orphanet:2364)
Glycogen storage disease due to muscle beta-enolase deficiency (Orphanet:99849)
Glycogen storage disease due to muscle glycogen phosphorylase deficiency (Orphanet:368)
Glycogen storage disease due to muscle phosphorylase kinase deficiency (Orphanet:715)
Glycogen storage disease due to phosphoglucomutase deficiency (Orphanet:711)
Glycogen storage disease due to phosphoglycerate mutase deficiency (Orphanet:97234)
Hereditary myopathy with lactic acidosis due to ISCU deficiency (Orphanet:43115)
Hyaline body myopathy (Orphanet:53698)
INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE (OMIM:600737)
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUTFRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUTFRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (Orphanet:52430)
Kearns-Sayre syndrome (Orphanet:480)
Kennedy disease (Orphanet:481)
King-Denborough syndrome (Orphanet:99741)
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Laing distal myopathy (Orphanet:59135)
Limited systemic sclerosis (Orphanet:220407)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Orphanet:5)
Lower motor neuron syndrome with late-adult onset (Orphanet:276435)
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 (OMIM:154275)
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 (OMIM:154276)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
MERRF (Orphanet:551)
MIYOSHI MUSCULAR DYSTROPHY 1 (OMIM:254130)
MIYOSHI MUSCULAR DYSTROPHY 3 (OMIM:613319)
MUSCLE CRAMPS, FAMILIAL (OMIM:158400)
MUSCULAR DYSTROPHY, CARDIAC TYPE (OMIM:309930)
MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL (OMIM:310095)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11 (OMIM:615181)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 (OMIM:615249)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13 (OMIM:615287)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14 (OMIM:615350)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5 (OMIM:613153)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 (OMIM:613154)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 (OMIM:614643)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 1 (OMIM:613155)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 (OMIM:615351)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 (OMIM:613156)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 3 (OMIM:613151)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6 (OMIM:608840)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),TYPE B, 4 (OMIM:613152)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 (OMIM:616094)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE (OMIM:268200)
MYOPATHY DUE TO MALATE-ASPARTATE SHUTTLE DEFECT (OMIM:254960)
MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS (OMIM:160570)
MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET (OMIM:609500)
MYOPATHY, CENTRONUCLEAR, 3 (OMIM:614408)
MYOPATHY, DISTAL, INFANTILE-ONSET (OMIM:160300)
MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE (OMIM:255160)
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209)
MYOPATHY, MYOSIN STORAGE (OMIM:608358)
MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET (OMIM:300718)
MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE (OMIM:300717)
MYOPATHY, TUBULAR AGGREGATE, 2 (OMIM:615883)
MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES (OMIM:616231)
Malignant hyperthermia (Orphanet:423)
Marinesco-Sjögren syndrome (Orphanet:559)
Maternally-inherited Leigh syndrome (Orphanet:255210)
McLeod neuroacanthocytosis syndrome (Orphanet:59306)
Metabolic myopathy due to lactate transporter defect (Orphanet:171690)
Mevalonic aciduria (Orphanet:29)
Mitochondrial DNA deletion syndrome with progressive myopathy (Orphanet:352470)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Mitochondrial DNA depletion syndrome, myopathic form (Orphanet:254875)
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (Orphanet:254864)
Mitochondrial trifunctional protein deficiency (Orphanet:746)
Miyoshi myopathy (Orphanet:45448)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Muscle filaminopathy (Orphanet:171445)
Muscle-eye-brain disease (Orphanet:588)
Muscular dystrophy, Selcen type (Orphanet:199340)
Myopathy and diabetes mellitus (Orphanet:2596)
Myopathy due to myoadenylate deaminase deficiency (OMIM:615511)
Myosclerosis (Orphanet:289380)
Myotilin-related myofibrillar myopathy without spheroid body (Orphanet:98911)
NONAKA MYOPATHY (OMIM:605820)
Neurodegeneration with brain iron accumulation due to C19orf12 mutation (Orphanet:289560)
Neutral lipid storage myopathy (Orphanet:98908)
Oculopharyngodistal myopathy (Orphanet:98897)
PGM1-CDG (Orphanet:319646)
POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY,AND PULMONARY FIBROSIS (OMIM:615704)
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 (OMIM:610131)
PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA (OMIM:600706)
Polyglucosan body myopathy type 1 (ORPHA:397937)
Porencephaly (Orphanet:2940)
Potassium-aggravated myotonia (Orphanet:612)
Progressive external ophthalmoplegia - myopathy - emaciation (Orphanet:352447)
Progressive myoclonic epilepsy type 6 (Orphanet:280620)
Proximal myotonic myopathy (Orphanet:606)
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (Orphanet:88618)
RIPPLING MUSCLE DISEASE (OMIM:606072)
Recessive mitochondrial ataxia syndrome (Orphanet:94125)
Reducing body myopathy (Orphanet:97239)
Retinohepatoendocrinologic syndrome (Orphanet:3087)
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 (OMIM:606002)
Spheroid body myopathy (Orphanet:268129)
Spinocerebellar ataxia with axonal neuropathy type 2 (Orphanet:64753)
Stormorken-Sjaastad-Langslet syndrome (Orphanet:3204)
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (Orphanet:206546)
TMEM165-CDG (Orphanet:314667)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Tubular aggregate myopathy (Orphanet:2593)
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Uhl anomaly (Orphanet:3403)
VACUOLAR NEUROMYOPATHY (OMIM:601846)
Very long chain acyl-CoA dehydrogenase deficiency (Orphanet:26793)
X-linked Charcot-Marie-Tooth disease type 4 (Orphanet:101078)
X-linked Emery-Dreifuss muscular dystrophy (Orphanet:98863)
X-linked myopathy with excessive autophagy (Orphanet:25980)
X-linked myopathy with postural muscle atrophy (Orphanet:178461)
ZASP-related myofibrillar myopathy (Orphanet:98912)
[DEL] MUSCULAR DYSTROPHY, BECKER TYPE (OMIM:300376)
[DEL]EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)