Autosomal dominant limb-girdle muscular dystrophy type 1C

General Information (adopted from Orphanet):

Synonyms, Signs: LGMD1C
Limb-girdle muscular dystrophy due to caveolin-3 deficiency
Number of Symptoms 12
OrphanetNr: 265
OMIM Id: 607801
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant limb-girdle muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of caveolin-3
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008981) Calf muscle hypertrophy 28 / 7739
2
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
3
 (HPO:0003326) Myalgia 143 / 7739
4
 (HPO:0003391) Gowers sign 37 / 7739
5
 (HPO:0003394) Muscle cramps 106 / 7739
6
 (HPO:0003560) Muscular dystrophy 88 / 7739
7
 (HPO:0003701) Proximal muscle weakness 105 / 7739
8
 (HPO:0011463) Childhood onset 65 / 7739
9
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
 (OMIM) Decreased caveolin-3 expression seen on muscle biopsy 1 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (OMIM) Dystrophic changes seen on skeletal muscle biopsy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Minetti et al. (1998) described 8 patients from 2 different families with a new form of autosomal dominant limb-girdle muscular dystrophy, which they proposed to call LGMD1C, that was associated with a severe deficiency of caveolin-3 in muscle ...
Molecular genetics OMIM In 2 families with autosomal dominant limb-girdle muscular dystrophy type 1C, Minetti et al. (1998) identified 2 heterozygous mutations in the CAV3 gene (601253.0001 and 601253.0002).

Whereas autosomal dominant LGMD1C has been related to heterozygous CAV3 ...