Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

Multiminicore disease (MmD) is an autosomal recessive congenital myopathy characterized by the presence of multiple, short core lesions (known as “minicores”) in most muscle fibers. MmD is a clinically heterogeneous condition, in which four subgroups have been distinguished. Homozygous RYR1 mutation...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Ferreiro, Ana, Quijano-Roy, Susana, Pichereau, Claire, Moghadaszadeh, Behzad, Goemans, Nathalie, Bönnemann, Carsten, Jungbluth, Heinz, Straub, Volker, Villanova, Marcello, Leroy, Jean-Paul, Romero, Norma B., Martin, Jean-Jacques, Muntoni, Francesco, Voit, Thomas, Estournet, Brigitte, Richard, Pascale, Fardeau, Michel, Guicheney, Pascale
Формат: Artigo
Язык:Inglês
Опубликовано: The American Society of Human Genetics 2002
Предметы:
Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC378532/
https://ncbi.nlm.nih.gov/pubmed/12192640
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы