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Two closely spaced nonsense mutations in the DMD gene in a Malaysian family.

Abstract：

:In Duchenne muscular dystrophy (DMD), identification of one nonsense mutation in the DMD gene has been considered an endpoint of genetic diagnosis. Here, we identified two closely spaced nonsense mutations in the DMD gene. In a Malaysian DMD patient two nonsense mutations (p.234S>X and p.249Q>X, respectively) were identified within exon 8. The proband's mother carried both mutations on one allele. Multiple mutations may explain the occasional discrepancies between genotype and phenotype in dystrophinopathy.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Rani AQ,Malueka RG,Sasongko TH,Awano H,Lee T,Yagi M,Zilfalil BA,Salmi AB,Takeshima Y,Zabidi-Hussin ZA,Matsuo M

doi

10.1016/j.ymgme.2011.04.002

subject

Has Abstract

pub_date

2011-07-01 00:00:00

pages

303-4

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(11)00102-8

journal_volume

103

pub_type

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