## Abstract Autosomal recessive spastic ataxia of CharlevoixβSaguenay (ARSACS) is an inherited neurodegenerative disorder characterized by earlyβonset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We repor
A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family
β Scribed by Dar-Shong Lin; Chun-Yan Yeung; Hsuan-Liang Liu; Che-Sheng Ho; Chyong-Hsin Shu; Chih-Kuang Chuang; Yu-Wen Huang; Tsu-Yen Wu; Zon-Darr Huang; Yuan-Ren Jian; Shuan-Pei Lin
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 906 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1552-4825
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Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations.
## Abstract The use of genome wide genotyping arrays has the potential to assess entire groups of genetic disorders in one application and has begun to emerge as an aid to diagnosis in clinical practice. Recessive families may suffer from diseases because of homozygosity of recessive alleles; homoz
severe pulmonary and intestinal disease including ileus at birth and liver cirrhosis at the age 5 years, whereas the other one developed much better with only mild pulmonary changes. Clinical follow-up evaluation of our patient, a 5-year-old girl, was evocative of an intermediary status. Diagnosis o