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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Update: Sept. 26, 2018