Paternal transmission of congenital myotonic dystrophy.

We report a rare case of paternally transmitted congenital myotonic dystrophy (DM). The proband is a 23 year old, mentally retarded male who suffers severe muscular weakness. He presented with respiratory and feeding difficulties at birth. His two sibs suffer from childhood onset DM. Their late fath...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: de Die-Smulders, C E, Smeets, H J, Loots, W, Anten, H B, Mirandolle, J F, Geraedts, J P, Höweler, C J
Формат: Artigo
Язык:Inglês
Опубликовано: 1997
Предметы:
Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051123/
https://ncbi.nlm.nih.gov/pubmed/9391889
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы