MIYOSHI MUSCULAR DYSTROPHY 3

General Information (adopted from Orphanet):

Synonyms, Signs: MIYOSHI MYOPATHY 3
MMD3
Number of Symptoms 21
OrphanetNr:
OMIM Id: 613319
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008981) Calf muscle hypertrophy 28 / 7739
2
(HPO:0009050) Quadriceps muscle atrophy 1 / 7739
3
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
4
(HPO:0002460) Distal muscle weakness 122 / 7739
5
(HPO:0003551) Difficulty climbing stairs 23 / 7739
6
(HPO:0003560) Muscular dystrophy 88 / 7739
7
(HPO:0009046) Difficulty running 17 / 7739
8
(OMIM) Calf atrophy (later onset) 1 / 7739
9
(OMIM) Muscle weakness and atrophy may be asymmetric 1 / 7739
10
(OMIM) Difficulty rising from chair 1 / 7739
11
(OMIM) Inability to stand on tiptoes 1 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(OMIM) Proximal lower limb muscle weakness, upper and lower (later onset) 1 / 7739
14
(OMIM) Calf muscle discomfort 1 / 7739
15
(OMIM) Quadriceps atrophy 2 / 7739
16
(OMIM) Disruption of the sarcolemmal membrane seen on muscle biopsy 1 / 7739
17
(OMIM) Hypertrophy of the extensor digitorum brevis muscles 1 / 7739
18
(OMIM) MRI shows fatty infiltration of affected muscles 2 / 7739
19
(HPO:0003581) Adult onset 117 / 7739
20
(OMIM) Calf muscle weakness 2 / 7739
21
(HPO:0003828) Variable expressivity 130 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Linssen et al. (1998) reported a Dutch family with Miyoshi myopathy not caused by dysferlin mutations (DYSF; 603009) and not linked to the MMD2 locus (613318) on chromosome 10. Age at onset ranged from 39 to 51 years, ...
Molecular genetics OMIM In affected members of a Dutch family with MMD3 (Linssen et al., 1998), Bolduc et al. (2010) identified a homozygous mutation in the ANO5 gene (191dupA; 608662.0004). Two Finnish brothers with Miyoshi myopathy (Jaiswal et al., 2007) were ...