[Limb-girdle muscular dystrophy: clinical, hereditary and histological features: study of a family (author's transl)].
The family of an "affected" subject with limb girdle dystrophy has been studied in order to assess the clinical-hereditary characteristics of the disease and to contribute to its definite genetic features (phenotypical expressiveness of the pathologic gene). The diagnosis of certitude was based on the anamnestic-clinical criteria and instrumental investigations, supported by histological and histochemical studies of the muscles. The clinical, electromyographic and biochemical data made it possible to distinguish the "affected" from the "subclinical" and the healthy subjects. The subjects that, without noticeable symptoms of neuromuscular disorders, showed a slight clinical expressiveness which didn't alter the normal social and working activities, have been defined "subclinical". The modalities of hereditary transmission of this form of muscular dystrophy are considered in the light of the genetics most present trends that are tending to overcome the dominant-recessive dualism. The possibility of a modality of transmission definable as "intermediate inheritance" is proposed. In the case of the examined family the hypothesis that a pathologic recessive autosomic gene gives rise to a clinical expressiveness in heterozygote subjects seems tenable. This situation definable as "incomplete recessive" is rarely found in the limb girdle dystrophy.
D000251:Adenosine Triphosphatases / Q000378:metabolism; D000328:Adult; D000368:Aged; D002648:Child; D006651:Histocytochemistry; D006801:Humans; D008875:Middle Aged; D009132:Muscles / Q000201:enzymology / Q000473:pathology*; D009136:Muscular Dystrophies / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D009246:NADH Tetrazolium Reductase / Q000378:metabolism; D010375:Pedigree; D013577:Syndrome
D009246:NADH Tetrazolium Reductase; D000251:Adenosine Triphosphatases
Distrofia muscolare dei cingoli: evidenze cliniche, ereditarie ed istologiche. Studio di una famiglia.