Myopathy, myosin storage, autosomal recessive
- Synonyms
- CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (45 available)
Genes See tests for all associated and related genes
Also known as: CMD1S, CMH1, CMYO7A, CMYO7B, CMYP7A, CMYP7B, MPD1, MYHCB, SPMD, SPMM, MYH7
Summary: myosin heavy chain 7
Clinical features
Help- Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Myopathic facies
Myopathic facies
- MedGen UID: 90695
- Concept ID: C0332615
- Finding: Finding
Abnormality of head or neck
- High palate
- Abnormality of limbs
- Limb-girdle muscle weakness
Limb-girdle muscle weakness
- MedGen UID: 347625
- Concept ID: C1858127
- Finding: Finding
Abnormality of limbs
- Limb-girdle muscle weakness
- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of the cardiovascular system
- Biventricular hypertrophy
Biventricular hypertrophy
- MedGen UID: 807328
- Concept ID: C0281788
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Congestive heart failure
Congestive heart failure
- MedGen UID: 9169
- Concept ID: C0018802
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Elevated jugular venous pressure
Elevated jugular venous pressure
- MedGen UID: 636282
- Concept ID: C0520861
- Finding: Finding
Abnormality of the cardiovascular system
- Fourth heart sound
Fourth heart sound
- MedGen UID: 604154
- Concept ID: C0425593
- Finding: Finding
Abnormality of the cardiovascular system
- Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
- MedGen UID: 2881
- Concept ID: C0007194
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Primary dilated cardiomyopathy
Primary dilated cardiomyopathy
- MedGen UID: 2880
- Concept ID: C0007193
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Right axis deviation
Right axis deviation
- MedGen UID: 534422
- Concept ID: C0232296
- Finding: Finding
Abnormality of the cardiovascular system
- Right bundle branch block
Right bundle branch block
- MedGen UID: 88445
- Concept ID: C0085615
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Sinus tachycardia
Sinus tachycardia
- MedGen UID: 11700
- Concept ID: C0039239
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Biventricular hypertrophy
- Abnormality of the musculoskeletal system
- Calf muscle hypertrophy
Calf muscle hypertrophy
- MedGen UID: 335868
- Concept ID: C1843057
- Finding: Finding
Abnormality of the musculoskeletal system
- Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers
- MedGen UID: 330782
- Concept ID: C1842170
- Finding: Finding
Abnormality of the musculoskeletal system
- EMG: myopathic abnormalities
EMG: myopathic abnormalities
- MedGen UID: 867362
- Concept ID: C4021726
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Muscle fiber hyaline bodies
Muscle fiber hyaline bodies
- MedGen UID: 867765
- Concept ID: C4022155
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Proximal amyotrophy
Proximal amyotrophy
- MedGen UID: 342591
- Concept ID: C1850794
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Proximal muscle weakness
Proximal muscle weakness
- MedGen UID: 113169
- Concept ID: C0221629
- Finding: Finding
Abnormality of the musculoskeletal system
- Scapuloperoneal amyotrophy
Scapuloperoneal amyotrophy
- MedGen UID: 331235
- Concept ID: C1842162
- Finding: Finding
Abnormality of the musculoskeletal system
- Scapuloperoneal weakness
Scapuloperoneal weakness
- MedGen UID: 331234
- Concept ID: C1842161
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Thoracic scoliosis
Thoracic scoliosis
- MedGen UID: 387910
- Concept ID: C1857790
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Type 1 muscle fiber predominance
Type 1 muscle fiber predominance
- MedGen UID: 344274
- Concept ID: C1854387
- Finding: Finding
Abnormality of the musculoskeletal system
- Calf muscle hypertrophy
- Abnormality of the nervous system
- Loss of ambulation
Loss of ambulation
- MedGen UID: 332305
- Concept ID: C1836843
- Finding: Finding
Abnormality of the nervous system
- Loss of ambulation
- Abnormality of the respiratory system
- Exertional dyspnea
Exertional dyspnea
- MedGen UID: 68549
- Concept ID: C0231807
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Respiratory insufficiency
Respiratory insufficiency
- MedGen UID: 11197
- Concept ID: C0035229
- Finding: Pathologic Function
Abnormality of the respiratory system
- Restrictive ventilatory defect
Restrictive ventilatory defect
- MedGen UID: 478856
- Concept ID: C3277226
- Finding: Finding
Abnormality of the respiratory system
- Exertional dyspnea
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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