Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation

A 41-year-old man presented with gradually progressing proximal-dominant lower limb atrophy and weakness. His brother, mother and maternal aunt had the same symptoms. A physical examination and muscle imaging (CT and ultrasound) showed selective muscle involvement of the bilateral paraspinal, gluteu...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Intern Med
Main Authors: Kojima, Yuta, Noto, Yu-ichi, Takewaki, Daiki, Tokuda, Naoki, Shiga, Kensuke, Hamano, Ai, Mizuta, Ikuko, Muranishi, Manabu, Kasai, Takashi, Nakagawa, Masanori, Mizuno, Toshiki
Formato: Artigo
Idioma:Inglês
Publicado em: The Japanese Society of Internal Medicine 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5635313/
https://ncbi.nlm.nih.gov/pubmed/28794355
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.6957-15
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados