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Autosomal dominant limb-girdle muscular dystrophy type 1A
1 OMIM reference -
1 associated gene
26 connected diseases
No signs/symptoms info
Disease Type of connection
Myotilin-related myofibrillar myopathy without spheroid body
Spheroid body myopathy
Autosomal dominant macrothrombocytopenia
Distal myopathy with posterior leg and anterior hand involvement
Muscle filaminopathy
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Extraskeletal myxoid chondrosarcoma
Hereditary motor and sensory neuropathy, Okinawa type
Papillary or follicular thyroid carcinoma
Spastic paraplegia-optic atrophy-neuropathy syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- LGMD1A
- Limb-girdle muscular dystrophy due to myotilin deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MYOT Q9UBF9604103
No signs/symptoms info available.