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Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family

✍ Scribed by Giovanni Manfredi; Gabriella Silvestri; Serenella Servidei; Enzo Ricci; Massimiliano Mirabella; Enrico Bertini; Manuela Papacci; Michele Rana; Pietro Tonali


Book ID
118931642
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
402 KB
Volume
115
Category
Article
ISSN
0022-510X

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Parkin disease in a Brazilian kindred: M
✍ Naheed L. Khan; Wagner Horta; Louise Eunson; Elizabeth Graham; Janel O. Johnson; πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 96 KB

## Abstract We report on a large Brazilian kindred with young‐onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extrapyramidal signs. A