Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations

Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance. Autosomal dominant LGMD mapped to 7q36.3 has been classified as LGMD type 1D (LGMD1D) in the Human Gene Nomenclature Committee Database. LGMD1D is characterized predominantly by limb-girdle weakness and m...

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Detalles Bibliográficos
Autores principales: Kim, Kitae, Park, Hyung Jun, Lee, Jung Hwan, Hong, Jiman, Ahn, Suk-Won, Choi, Young-Chul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990685/
https://www.ncbi.nlm.nih.gov/pubmed/29869469
http://dx.doi.org/10.3349/ymj.2018.59.5.698

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990685/
https://www.ncbi.nlm.nih.gov/pubmed/29869469
http://dx.doi.org/10.3349/ymj.2018.59.5.698

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