Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal dominant
14q11.2
Myosin storage myopathy, also known as hyaline body myopathy, is a congenital myopathy characterized by the accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers. The clinical features are variable, with different patients displaying proximal, scapuloperoneal, or generalized weakness and progressive or nonprogressive courses. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 608358.1.1 | Saudi Arabia | Male | Yes | Yes | Pectus excavatum; Restrictive ventilator... Pectus excavatum; Restrictive ventilatory defect; Skeletal muscle atrophy; Muscle weakness  | NM_000257.4:c.5702A>T | Heterozygous | Autosomal, Dominant | Bohlega et al. 2003; Bohlega et al. 2004 | |
| 608358.1.2 | Saudi Arabia | Female | Yes | Loss of ambulation; Hyperthyroidism; Hyp... Loss of ambulation; Hyperthyroidism; Hypertension | NM_000257.4:c.5702A>T | Heterozygous | Autosomal, Dominant | Bohlega et al. 2003; Bohlega et al. 2004 | Mother of 608358.1.1 | |
| 608358.1.3 | Saudi Arabia | Female | Yes | Yes | Foot dorsiflexor weakness; Muscle weakne... Foot dorsiflexor weakness; Muscle weakness | NM_000257.4:c.5702A>T | Heterozygous | Autosomal, Dominant | Bohlega et al. 2003; Bohlega et al. 2004 | Sister of 608358.1.1 |
| 608358.1.4 | Saudi Arabia | Male | Yes | Yes | Decreased fetal movement; Minimal subcut... Decreased fetal movement; Minimal subcutaneous fat; High palate; Muscle weakness; Skeletal muscle atrophy | NM_000257.4:c.5702A>T | Heterozygous | Autosomal, Dominant | Bohlega et al. 2003; Bohlega et al. 2004 | Brother of 608358.1.... |
| 608358.1.5 | Saudi Arabia | Male | Yes | Yes | High palate; Dysarthria; Scoliosis; Gowe... High palate; Dysarthria; Scoliosis; Gowers sign; Foot dorsiflexor weakness; Muscle weakness | NM_000257.4:c.5702A>T | Heterozygous | Autosomal, Dominant | Bohlega et al. 2003; Bohlega et al. 2004 | Brother of 608358.1.... |
| 608358.1.6 | Saudi Arabia | Male | Yes | Yes | High palate; Narrow jaw High palate; Narrow jaw | NM_000257.4:c.5702A>T | Heterozygous | Autosomal, Dominant | Bohlega et al. 2003; Bohlega et al. 2004 | Brother of 608358.1.... |
| 608358.1.7 | Saudi Arabia | Male | Yes | Yes | Gowers sign; Foot dorsiflexor weakness; ... Gowers sign; Foot dorsiflexor weakness; Scapular winging; Achilles tendon contracture; Knee flexion contracture | NM_000257.4:c.5702A>T | Heterozygous | Autosomal, Dominant | Bohlega et al. 2003; Bohlega et al. 2004 | Brother of 608358.1.... |
| 608358.1.8 | Saudi Arabia | Female | Yes | Yes | Minimal subcutaneous fat; Skeletal muscl... Minimal subcutaneous fat; Skeletal muscle atrophy; Muscle weakness | NM_000257.4:c.5702A>T | Heterozygous | Autosomal, Dominant | Bohlega et al. 2003; Bohlega et al. 2004 | Sister of 608358.1.1 |
| 608358.1.9 | Saudi Arabia | Male | Yes | Yes | Dysarthria; Scoliosis; Foot dorsiflexor ... Dysarthria; Scoliosis; Foot dorsiflexor weakness; Loss of ambulation; Scapular winging; Proximal muscle weakness; Distal muscle weakness; Achilles tendon contracture; Knee flexion contracture | NM_000257.4:c.5702A>T | Heterozygous | Autosomal, Dominant | Bohlega et al. 2003; Bohlega et al. 2004 | Brother of 608358.1.... |