Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients.

Mroczek, Magdalena

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients. [electronic resource] - Neuromuscular disorders : NMD 04 2020 - 310-314 p. digital

Publication Type: Case Reports; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Journal Article

1873-2364

10.1016/j.nmd.2020.02.006 doi


Adenylosuccinate Synthase--genetics
Adolescent
Adult
Consanguinity
Distal Myopathies--genetics
Female
Humans
India
Male
Pedigree
Phenotype
Turkey