Ontology highlight
ABSTRACT:
SUBMITTER: Bohm J
PROVIDER: S-EPMC3014877 | biostudies-literature | 2010
REPOSITORIES: biostudies-literature
Böhm Johann J Böhm Johann J Yiş Uluç U Ortaç Ragıp R Cakmakçı Handan H Kurul Semra Hız SH Dirik Eray E Laporte Jocelyn J
Orphanet journal of rare diseases 20101203
Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical CNM phenotype. The X-linked neonatal form (XLCNM) is due to mutations in MTM1 and involves a severe and generalized muscle weakness at birth. The autosomal dominant form results from DNM2 mutations and has been described with early childhood and adult onset (ADCNM). Autosomal recessive centr ...[more]