Linkage in a family with X‐linked Charcot‐Marie‐Tooth disease

Haites, Neva Elizabeth; Fairweather, Nicholas D.; Clark, Caroline; Kf, Kelly; S, Simpson; Aw, Johnston

doi:10.1111/j.1399-0004.1989.tb02964.x

Cited by 24 publications

(2 citation statements)

References 11 publications

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“…However, it now well accepted that X-linked form(s) of HMSN do exist (e.g. Gal et al 1985, Haites et al 1989, Mostacciuolo et al 1991. As far as we are aware, aplasia cutis congenita has only ever been reported as an autosomal condition (McKusick 1986).…”

Section: Discussionmentioning

confidence: 99%

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Hereditary motor and sensory neuropathy type I, associated with aplasia cutis congenital possible X‐linked inheritance

Isaacs

Ramsay

1992

Clinical Genetics

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Castle D, Isaacs H, Ramsay M, Bernstein R. Hereditary motor and sensory neuropathy type I, associated with aplasia cutis congenita: possible X‐linked inheritance. Clin Genet 1992:41: 108–110. We report a family with possible X‐linked recessive HMSN I with minor signs of the disease and abnormal sensory conduction studies evident in female carriers. There is a previously undescribed association with aplasia cutis congenita in both affected males, and a history of a severe skull defect in a third male child, who died at birth. The latter defect usually shows an autosomal dominant pattern of inheritance.

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Section: Discussionmentioning

confidence: 99%

“…Linkage studies performed in families with Xlinked HMSN have shown that the gene locus maps on the proximal long arm of the X-chromosome (Haites et al 1989, Mostacciuolo et al 1991).…”

Section: Linkage Analysismentioning

confidence: 99%

Hereditary motor and sensory neuropathy type I, associated with aplasia cutis congenital possible X‐linked inheritance

Isaacs

Ramsay

1992

Clinical Genetics

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Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-tooth neuropathy

1996

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We studied the relationship between the genotype and clinical phenotype in 27 families with dominant X‐linked Charcot‐Marie‐Tooth (CMTX1) neuropathy. Twenty‐two families showed mutations in the coding region of the connexin32 (cx32) gene. The mutations include four nonsense mutations, eight missense mutations, two medium size deletions, and one insertion. Most missense mutations showed a mild clinical phenotype (five out of eight), whereas all nonsense mutations, the larger of the two deletions, and the insertion that produced frameshifts showed severe phenotypes. Five CMTX1 families with mild clinical phenotype showed no point mutations of the cx32 gene coding region. Three of these families showed positive genetic linkage with the markers of the Xq13.1 region. The genetic linkage of the remaining two families could not be evaluated because of their small size. © 1996 Wiley‐Liss, Inc.

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Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 C×32 mutations in 35 families

Rouger

LeGuern

Birouk³

et al. 1997

Hum. Mutat.

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Linkage in a family with X‐linked Charcot‐Marie‐Tooth disease

Cited by 24 publications

References 11 publications

Hereditary motor and sensory neuropathy type I, associated with aplasia cutis congenital possible X‐linked inheritance

Hereditary motor and sensory neuropathy type I, associated with aplasia cutis congenital possible X‐linked inheritance

Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-tooth neuropathy

Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 C×32 mutations in 35 families

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