title: Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.
abstract: Centronuclear myopathy (CNM) is a rare hereditary congenital myopathy characterized by muscular hypotonia and abnormal centralization of nuclei in muscle fibers. The autosomal recessive (AR) form presents from birth to childhood, followed by a mild progression of muscle weakness. Despite recently identified genetic loci in the AR form, genotype-phenotype correlations are poorly established. Our index case is a 17 year old boy with recessive CNM causing loss of ambulation at 13 years of age and requiring ventilatory assistance nightly. Recent genetic testing revealed a c.1723A > T mutation in the BIN1 gene. The phenotype of the index case contrasts to previously published cases, where recessive CNM patients have lost ambulation in their 20s and have not required ventilatory assistance. The disease severity of our index case, carrying a c.1723A > T mutation, widens the phenotypic spectrum of AR CNM to include earlier loss of ambulation and respiratory failure.
authors.affiliation: Center for Molecular Medicine and Department of Woman and Child Health, Neuropediatric Unit, Karolinska Institutet, Stockholm, Sweden.
authors.forename: A Y
authors.initials: AY
authors.lastname: Mejaddam
authors.forename: I
authors.initials: I
authors.lastname: Nennesmo
authors.forename: T
authors.initials: T
authors.lastname: Sejersen
mesh_terms: D000293:Adolescent; D001707:Biopsy, Needle; D018389:Codon, Nonsense; D005808:Genes, Recessive; D056726:Genetic Association Studies; D006720:Homozygote; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: D018389:Codon, Nonsense; D009419:Nerve Tissue Proteins; C075637:amphiphysin