title: PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness.
abstract: We describe a family with a proximal myopathy, subclinical EMG myotonia, cataracts and deafness. Transmission through two generations and down the male line confirms autosomal dominant inheritance. There was no abnormal expansion of the CTG triplet repeat in the last exon of the dystrophia myotonica protein kinase (DMPK) gene associated with myotonic dystrophy. Heteroduplex analysis of all but the promoter region of the DMPK gene has excluded point mutations in this gene as an underlying cause for this myotonic disorder. The family was not sufficiently informative to exclude linkage to the sodium channel gene SCN4A or the chloride channel gene CLC1. This family clearly fulfils the recently established diagnostic criteria for PROMM (proximal myotonic myopathy) and in addition shows consistent severe deafness as a hitherto undescribed feature of PROMM. We discuss the diagnostic criteria of PROMM in relation to this family and other recent papers, all of which would now fulfil the aforementioned diagnostic criteria for PROMM.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.
authors.forename: M F
authors.initials: MF
authors.lastname: Phillips
authors.forename: M T
authors.initials: MT
authors.lastname: Rogers
authors.forename: R
authors.initials: R
authors.lastname: Barnetson
authors.forename: C
authors.initials: C
authors.lastname: Braun
authors.forename: H G
authors.initials: HG
authors.lastname: Harley
authors.forename: J
authors.initials: J
authors.lastname: Myring
authors.forename: D
authors.initials: D
authors.lastname: Stevens
authors.forename: C M
authors.initials: CM
authors.lastname: Wiles
authors.forename: P S
authors.initials: PS
authors.lastname: Harper
mesh_terms: D000328:Adult; D000368:Aged; D001299:Audiometry; D002386:Cataract / Q000235:genetics / Q000473:pathology; D003638:Deafness / Q000235:genetics / Q000473:pathology; D004576:Electromyography; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology; D009222:Myotonia / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype