Rather mild phenotype in a patient with homozygous null mutations in the a-sarcoglycan gene

Antzeko izenburuak

• Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy
  nork: Wiktoria Radziwonik-Frączyk, et al.
  Argitaratua: (2024-07-01)
• A FRAMEWORK FOR PSYCHOLOGICAL MANAGEMENT OF INDIVIDUALS WITH MUSCULAR DYSTROPHY /
  nork: Elna Herawati Che Ismail, author 654886, et al.
  Argitaratua: (2022)
• A FRAMEWORK FOR PSYCHOLOGICAL MANAGEMENT OF INDIVIDUALS WITH MUSCULAR DYSTROPHY /
  nork: Elna Herawati Che Ismail, author 654886, et al.
  Argitaratua: (2022)
• Clinical description of a homozygous Lys 1169* variant in the DYSF gene associated with autosomal recessive Miyoshi muscular dystrophy type 1: A familial case report
  nork: Alex S. Aguirre, et al.
  Argitaratua: (2024-08-01)
• Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes
  nork: Katja Neuhoff, et al.
  Argitaratua: (2024-11-01)