Details

Autor(en) / Beteiligte

• Tawil, Rabi
• Storvick, Diane
• Weiffenbach, Barbara
• Altherr, Michael R.
• Feasby, Thomas E.
• Griggs, Robert C.

Titel

Chromosome 4q DNA rearrangement in monozygotic twins discordant for facioscapulohumeral muscular dystrophy

Ist Teil von

• Human mutation, 1993, Vol.2 (6), p.492-494

Ort / Verlag

New York: Wiley Subscription Services, Inc., A Wiley Company

Erscheinungsjahr

1993

Quelle

Wiley Online Journals

Beschreibungen/Notizen

• Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder which presents with a distinct pattern of weakness involving sequentially the facial, scapular stabilizer, peroneal, and hip girdle muscles. We recently reported a pair of identical twins with no family history of FSHD that appeared discordant for the FSHD phenotype. We report our DNA findings which show discordance with D4S809.