Autosomal recessive centronuclear myopathy

General Information (adopted from Orphanet):

Synonyms, Signs: MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVE
MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE
AR-CNM
CNM2
Number of Symptoms 45
OrphanetNr: 169186
OMIM Id: 255200
ICD-10: G71.2
UMLs: C0410204
MeSH:
MedDRA:
Snomed: 240081004

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Centronuclear myopathy
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of titin
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000218) High palate rare [HPO:skoehler] 356 / 7739
2
 (HPO:0000276) Long face rare [HPO:skoehler] 109 / 7739
3
 (HPO:0000275) Narrow face 76 / 7739
4
 (HPO:0002705) High, narrow palate 308 / 7739
5
 (HPO:0010628) Facial palsy 146 / 7739
6
 (HPO:0000508) Ptosis 459 / 7739
7
 (HPO:0000602) Ophthalmoplegia 56 / 7739
8
 (HPO:0001270) Motor delay 322 / 7739
9
 (HPO:0001284) Areflexia 198 / 7739
10
 (HPO:0001260) Dysarthria 329 / 7739
11
 (HPO:0002515) Waddling gait 56 / 7739
12
 (HPO:0001256) Intellectual disability, mild rare [HPO:skoehler] 141 / 7739
13
 (HPO:0001618) Dysphonia 28 / 7739
14
 (HPO:0002650) Scoliosis 705 / 7739
15
 (HPO:0001762) Talipes equinovarus rare [HPO:skoehler] 309 / 7739
16
 (HPO:0001371) Flexion contracture 220 / 7739
17
 (HPO:0001763) Pes planus 176 / 7739
18
 (HPO:0001765) Hammertoe 63 / 7739
19
 (HPO:0001761) Pes cavus rare [HPO:skoehler] 225 / 7739
20
 (HPO:0001822) Hallux valgus 70 / 7739
21
 (HPO:0002808) Kyphosis 289 / 7739
22
 (HPO:0001838) Rocker bottom foot 85 / 7739
23
 (HPO:0003307) Hyperlordosis 122 / 7739
24
 (HPO:0003691) Scapular winging rare [HPO:skoehler] 51 / 7739
25
 (HPO:0011968) Feeding difficulties 240 / 7739
26
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
27
 (HPO:0002747) Respiratory insufficiency due to muscle weakness rare [HPO:skoehler] 48 / 7739
28
 (HPO:0003687) Centrally nucleated skeletal muscle fibers 15 / 7739
29
 (HPO:0001319) Neonatal hypotonia 101 / 7739
30
 (HPO:0003327) Axial muscle weakness 10 / 7739
31
 (HPO:0003458) EMG: myopathic abnormalities 38 / 7739
32
 (HPO:0003391) Gowers sign 37 / 7739
33
 (HPO:0003700) Generalized amyotrophy 39 / 7739
34
 (HPO:0002460) Distal muscle weakness 122 / 7739
35
 (OMIM) Muscle weakness, predominantly proximal 4 / 7739
36
 (OMIM) [DEL]EMG shows myopathic changes 27 / 7739
37
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
38
 (OMIM) Distal muscle weakness may occur 2 / 7739
39
 (OMIM) Decremental response to repetitive stimulation at neuromuscular junction 1 / 7739
40
 (OMIM) Myofibrillar disorganization 2 / 7739
41
 (OMIM) Type 1 fiber predominance 9 / 7739
42
 (OMIM) Thin hands with long fingers (1 patient) 1 / 7739
43
 (HPO:0003674) Onset 32 / 7739
44
 (OMIM) Muscle biopsy shows centralized nuclei 3 / 7739
45
 (OMIM) EMG may showed myotonic discharges 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sher et al. (1967) described 2 black sisters with generalized muscle weakness and wasting. In 80 to 98% of muscle fibers numerous nuclei were situated centrally. Little degenerative change was evident in the muscles. Muscle biopsy from the ...
Molecular genetics OMIM In affected members of 3 unrelated consanguineous families with autosomal recessive centronuclear myopathy, Nicot et al. (2007) identified homozygous mutations in the BIN1 gene (601248.0001-601248.0003).

In a Moroccan man with autosomal recessive centronuclear myopathy since childhood ...