✦ LIBER ✦

Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene

✍ Scribed by Mark A. Birch-Machin; Robert W. Taylor; Bruce Cochran; Brian A. C. Ackrell; Douglass M. Turnbull

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 778 KB
Volume: 48
Category: Article
ISSN: 0364-5134
DOI: 10.1002/1531-8249(200009)48:3<330::aid-ana7>3.0.co;2-a

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Deficiency of complex II of the mitochon

Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia

✍ Robert W. Taylor; Mark A. Birch-Machin; Jochen Schaefer; Louise Taylor; Raad Sha 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 941 KB

Defects of the mitochondrial respiratoiy chain are increasingly being recognized as an important cause of neurological disease in humans. In many of these patients, the biochemical defect results from an abnormality of the mitochondrial genome. Respiratory chain defects involving complex 11, which i

Late-onset Charcot-Marie-Tooth type 2 di

Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene

✍ Dagmara Kabzińska; Teresa Korwin-Piotrowska; Hanna Drechsler; Hanna Drac; Irena 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 189 KB 👁 1 views

A novel mutation in exon b (R259C) of th

A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy

✍ Andrew Donnelly; Eric Haan; James Manson; John Mulley 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 62 KB 👁 2 views

The genetic basis of the relatively mild myopathic symptoms exhibited in a male was investigated. Mutation screening of a candidate gene, MTM1, represented a chance of establishing the molecular defect and the mode of inheritance. SSCA detected variation of the exon b PCR products from the proband a

Mutation profile of the GAA gene in 40 I

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

✍ A.L.E. Montalvo; B. Bembi; M. Donnarumma; M. Filocamo; G. Parenti; M. Rossi; L. 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 255 KB 👁 1 views

Glycogen storage disease type II (GSDII) is a recessively inherited disorder due to the deficiency of acid alpha-glucosidase (GAA) that results in impaired glycogen degradation and its accumulation in the lysosomes. We report here the complete molecular analysis of the GAA gene performed on 40 Itali

Phenotypical spectrum of cerebellar atax

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII

✍ Namik Kaya; Hesham Aldhalaan; Banan Al-Younes; Dilek Colak; Taghreed Shuaib; Fah 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 793 KB

Novel, complex interruptions of the GAA

Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia

✍ Catherine A. Stolle; Edward C. Frackelton; Jennifer McCallum; Jennifer M. Farmer 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 749 KB

## Abstract Friedreich ataxia (FA) is an autosomal recessive disorder associated with expanded GAA repeats in intron 1 of the __FRDA__ gene. Two siblings presented with a mild form of FA at >60 years of age. Both had a large expansion (>600 repeats) and a small expansion (120 repeats) by long‐range