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laminopatie

  1. Subject h.laminopatie
    Subject h.Laminopathies
    Entry termschoroby aspociované s LMNA
    choroby spojené s LMNA
    English X referencesLMNA-Associated Diseases
    LMNA-Linked Diseases
    Scope note in EnglishCongenital neuromuscular and muscular dystrophy diseases associated with mutations in the LAMIN TYPE A (Lamin A/C or LMNA gene). It includes CARDIOMYOPATHY, DILATED, 1A; CHARCOT-MARIE-TOOTH DISEASE, type 2B1; EMERY-DREIFUSS MUSCULAR DYSTROPHY, types 2 and 3; HUTCHINSON-GILFORD PROGERIA SYNDROME; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Malouf syndrome; Mandibuloacral dysplasia; LMNA-related muscular dystrophy; Restrictive dermopathy, lethal; Heart-hand syndrome, Slovenian type.
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Number of the records: 1  

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