Autosomal recessive limb-girdle muscular dystrophy type 2G

General Information (adopted from Orphanet):

Synonyms, Signs: LGMD2G
Limb girdle muscular dystrophy due to telethonin deficiency
Number of Symptoms 31
OrphanetNr: 34514
OMIM Id: 601954
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 14 cases
Inheritance: Autosomal recessive
24843229 [IBIS]
Age of onset: Childhood
Adolescent
25724973 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive limb-girdle muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of telethonin
 -Rare genetic disease

Comment:

About 40% of the cases are known to lose independent ambulation during the third or fourth decade (PMID:25055047). The HCM (hypertrophic cardiomyopathy)-associated and DCM (dilated cardiomyopathy) associated mutations showed different changes in Tcap’s interaction properties with the Z-disc components (PMID:15582318).

Symptom Information: Sort by abundance 

1
 (HPO:0006785) Limb-girdle muscular dystrophy 24843229 IBIS 14 / 7739
2
 (HPO:0003560) Muscular dystrophy 24843229 IBIS 88 / 7739
3
 (HPO:0008994) Proximal muscle weakness in lower limbs 25724973 IBIS 11 / 7739
4
 (HPO:0009053) Distal lower limb muscle weakness 25298746 IBIS 13 / 7739
5
 (HPO:0007210) Lower limb amyotrophy 25055047 IBIS 7 / 7739
6
 (HPO:0008997) Proximal muscle weakness in upper limbs 25724973 IBIS 4 / 7739
7
 (HPO:0008948) Proximal upper limb amyotrophy 25724973 IBIS 3 / 7739
8
 (HPO:0008944) Distal lower limb amyotrophy 25298746 IBIS 12 / 7739
9
 (HPO:0100295) Muscle fiber atrophy 25298746 IBIS 22 / 7739
10
 (HPO:0003712) Skeletal muscle hypertrophy 25298746 IBIS 42 / 7739
11
 (HPO:0003555) Muscle fiber splitting 25298746 IBIS 11 / 7739
12
 (HPO:0100297) Increased endomysial connective tissue 25298746 IBIS 2 / 7739
13
 (HPO:0002378) Hand tremor 25298746 IBIS 9 / 7739
14
 (HPO:0010628) Facial palsy Rare [IBIS] 25298746 IBIS 146 / 7739
15
 (HPO:0001371) Flexion contracture 25724973 IBIS 220 / 7739
16
 (HPO:0003691) Scapular winging 25724973 IBIS 51 / 7739
17
 (HPO:0002938) Lumbar hyperlordosis 25724973 IBIS 73 / 7739
18
 (HPO:0002355) Difficulty walking 25724973 IBIS 61 / 7739
19
 (HPO:0008981) Calf muscle hypertrophy Frequent [IBIS] 25055047 IBIS 28 / 7739
20
 (HPO:0009027) Foot dorsiflexor weakness 25055047 IBIS 45 / 7739
21
 (HPO:0003236) Elevated serum creatine phosphokinase 25724973 IBIS 214 / 7739
22
 (HPO:0009046) Difficulty running 25724973 IBIS 17 / 7739
23
 (HPO:0003551) Difficulty climbing stairs 25724973 IBIS 23 / 7739
24
 (HPO:0003805) Rimmed vacuoles 25298746 IBIS 22 / 7739
25
 (HPO:0003557) Increased variability in muscle fiber diameter 23479141 IBIS 24 / 7739
26
 (HPO:0009025) Increased connective tissue 22057634 IBIS 11 / 7739
27
 (HPO:0001644) Dilated cardiomyopathy 15582318 IBIS 141 / 7739
28
 (HPO:0001639) Hypertrophic cardiomyopathy 15582318 IBIS 137 / 7739
29
 (HPO:0011712) Right bundle branch block 23479141 IBIS 34 / 7739
30
 (HPO:0012548) Fatty replacement of skeletal muscle 23479141 IBIS 8 / 7739
31
 (HPO:0003687) Centrally nucleated skeletal muscle fibers 23479141 IBIS 15 / 7739

Associated genes:

TCAP;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Moreira et al. (1997) reported a family of Italian ancestry in which several members were affected with a unique form of limb-girdle muscular dystrophy. The unaffected parents had a total of 8 offspring, of whom 6 were affected. ...
Molecular genetics OMIM In affected members of the LGMD2G family reported by Moreira et al. (1997), Moreira et al. (2000) identified compound heterozygosity for 2 mutations in the TCAP gene (604488.0001; 604488.0002). Affected members from 2 additional LGMD2G families were homozygous ...