Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal dominant Autosomal recessive
21q22.3
Bethlem myopathy-1 (BTHLM1) is a congenital muscular dystrophy characterized by proximal muscle weakness and a combination of distal and proximal flexion joint contractures. The age at onset is highly variable, ranging from infancy to adulthood, and there is intrafamilial variability. Muscle biopsy may show myopathic and dystrophic features; serum creatine kinase is elevated. The progression is slow and ambulation is usually retained into adulthood. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 620725.1 | Saudi Arabia | Female | Hypotonia; Muscle weakness; Easy fatigab... Hypotonia; Muscle weakness; Easy fatigability; Exercise intolerance  | NM_001849.4:c.2422+1G>A | Heterozygous | Autosomal, Dominant | Monies et al. 2017 |