Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal recessive
1p36.13
Progressive congenital myopathy with scoliosis (MYOSCO) is an autosomal recessive skeletal muscle disorder characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 618578.1 | Palestine | Male | Yes | Yes | Scoliosis; Generalized hypotonia; Skelet... Scoliosis; Generalized hypotonia; Skeletal muscle atrophy; Areflexia; Gait disturbance; Death in childhood  | NM_001135254.2:c.220C>T | Homozygous | Autosomal, Recessive | Feichtinger et al. 2019 | 'Individual 3' in th... |
| 618578.2.1 | Saudi Arabia | Male | Yes | Yes | Scoliosis; Axial hypotonia; Triangular f... Scoliosis; Axial hypotonia; Triangular face; Ptosis; Generalized hypotonia; Waddling gait; Distal muscle weakness | NM_001135254.2:c.166C>T | Homozygous | Autosomal, Recessive | Feichtinger et al. 2019 | 'Individual 4' in th... |
| 618578.2.2 | Saudi Arabia | Female | Yes | Yes | Scoliosis; Axial hypotonia; Triangular f... Scoliosis; Axial hypotonia; Triangular face; Ptosis; Generalized hypotonia; Distal muscle weakness; Gait disturbance | NM_001135254.2:c.166C>T | Homozygous | Autosomal, Recessive | Feichtinger et al. 2019 | Sister of 618578.2.1 |