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An expansion in the ZNF9 gene causes PROMM in a previously described family with an incidental CLCN1 mutation
  1. P J Lamont1,
  2. R L Jacob1,
  3. F L Mastaglia2,
  4. N G Laing2
  1. 1Neurogenetic unit, Departments of Neurology and Pathology, Royal Perth Hospital, Box X2213 GPO, Perth 6847, Western Australia
  2. 2Centre for Neuromuscular and Neurological Disorders, Australian Neuromuscular Research Unit, QEII Medical Centre, Perth, Western Australia
  1. Correspondence to:
 Dr P J Lamont;
 phillipa.lamonthealth.wa.gov.au

https://doi.org/10.1136/jnnp.2003.018432

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    In 1997 Mastaglia et al described a two generation family of Macedonian origin with phenotypic features of PROMM and an incidental CLCN1 mutation.1 Affected individuals had mild myotonia, predominantly proximal muscle weakness, and cataracts, compatible with a diagnosis of proximal myotonic myopathy (PROMM). Molecular genetic studies showed that the proposita did not have the chromosome 19 myotonic dystrophy (DM1) CTG expansion, but did have the R894X mutation in exon 23 of the muscle chloride channel gene (CLCN1). However she had only passed the R894X mutation to one of her two affected offspring. Thus the CLCN1 gene mutation did not segregate with the disease. We can now confirm that a definite genetic cause for PROMM has been identified in this family.

    In 1998 a locus for a second type of myotonic dystrophy (DM2 or PROMM) was mapped to chromosome 3q21.2 In 2001 it was shown that DM2/PROMM was caused by a …

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