Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Malouf-Syndrom

Das Malouf-Syndrom ist eine autosomal dominante Kardiomyopathie mit hypergonadotropem Hypogonadismus. Ursächlich sind Mutationen im LMNA-Gen.

Gliederung

Hereditäre Kardiomyopathie
Dilatative Kardiomyopathie 1A
Malouf-Syndrom
LMNA

Referenzen:

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 [^]
Update: 10. Mai 2019