Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Malouf syndrome

Malouf syndrome is an autosomal dominant disorder with hypergonadotropic hypogonadism. It is caused by mutations of the LMNA gene.

Systematic

Hereditary cardiomyopathy
Dilated cardiomyopathy 1A
Malouf syndrome
LMNA

References:

1.

None (2003) Drawing the line in progeria syndromes.

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2.

Chen L et al. (2003) LMNA mutations in atypical Werner's syndrome.

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3.

Nguyen D et al. (2007) Collagen expression in fibroblasts with a novel LMNA mutation.

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4.

McPherson E et al. (2009) Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.

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5.

Narahara K et al. (1992) Case of ovarian dysgenesis and dilated cardiomyopathy supports existence of Malouf syndrome.

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6.

Harbord MG et al. (1989) Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.

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7.

Malouf J et al. (1985) Hypergonadotropic hypogonadism with congestive cardiomyopathy: an autosomal-recessive disorder?

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8.

Najjar SS et al. (1973) Genital anomaly, mental retardation, and cardiomyopathy: a new syndrome?

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9.

Najjar SS et al. (1984) Genital anomaly and cardiomyopathy: a new syndrome.

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10.

Sacks HN et al. (1980) Familial cardiomyopathy, hypogonadism, and collagenoma.

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11.

Thomas IT et al. (1993) Najjar syndrome revisited.

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12.

Gursoy A et al. (2006) Familial dilated cardiomyopathy hypergonadotrophic hypogonadism associated with thyroid hemiagenesis.

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13.

Orphanet article

Orphanet ID 2229 [^]
14.

OMIM.ORG article

Omim 212112 [^]
15.

Wikipedia article

Wikipedia EN (Malouf_syndrome) [^]
Update: April 29, 2019