Human genes for rigid spine muscular dystrophy 1
Rigid spine muscular dystrophy 1 [DOID:0110633]
A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36.
Synonyms: rigid spine muscular dystrophy 1, DOID:0110633, classic MmD, classic multiminicore disease, classic multiminicore myopathy ...