MYOPATHY, MYOSIN STORAGE

General Information (adopted from Orphanet):

Synonyms, Signs: MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT
Number of Symptoms 24
OrphanetNr:
OMIM Id: 608358
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002515) Waddling gait 56 / 7739
2
(HPO:0003707) Calf muscle pseudohypertrophy 8 / 7739
3
(HPO:0003691) Scapular winging 51 / 7739
4
(HPO:0001626) Abnormality of the cardiovascular system 73 / 7739
5
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
6
(HPO:0002792) Reduced vital capacity 17 / 7739
7
(HPO:0003324) Generalized muscle weakness 48 / 7739
8
(HPO:0003803) Type 1 muscle fiber predominance 12 / 7739
9
(HPO:0003687) Centrally nucleated skeletal muscle fibers 15 / 7739
10
(HPO:0003697) Scapuloperoneal amyotrophy 5 / 7739
11
(HPO:0003704) Scapuloperoneal weakness 6 / 7739
12
(HPO:0009055) Generalized limb muscle atrophy 4 / 7739
13
(HPO:0003458) EMG: myopathic abnormalities 38 / 7739
14
(OMIM) Type 1 fibers with inclusions containing MYH7 protein aggregates 1 / 7739
15
(OMIM) Reduced vital capacity due to muscle weakness 1 / 7739
16
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
(OMIM) Muscle biopsy shows type 1 fiber predominance 2 / 7739
18
(OMIM) Generalized muscle weakness, proximal and distal 2 / 7739
19
(OMIM) No hypertrophic cardiomyopathy 1 / 7739
20
(OMIM) EMG shows myopathy 3 / 7739
21
(HPO:0003677) Slow progression 134 / 7739
22
(OMIM) Positive staining for ATPase activity at pH of 4.3 2 / 7739
23
(HPO:0003674) Onset 32 / 7739
24
(OMIM) Subsarcolemmal hyaline bodies in type 1 fibers only 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hyaline body myopathy is a rare congenital myopathy characterized by subsarcolemmal hyalinized bodies in type I muscle fibers.

Cancilla et al. (1971) described a brother and sister with a congenital myopathy in which they noted probable ...

Molecular genetics OMIM In affected members of a family and in an unrelated patient with myosin storage myopathy, Tajsharghi et al. (2003) identified a heterozygous mutation in the MYH7 gene (160760.0028).

In affected members of a Saudi Arabian family ...