Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation
نویسندگان
چکیده
منابع مشابه
A novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D
Background: Arrhythmogenic ventricular cardiomyopathy (AVC) is an inherited cardiac disorder affecting 1 in 1000 individuals worldwide. The mean diagnosed age of disease is 31 years. In this article, an Iranian family reported that they were affected by ARVC due to a novel PKP2 mutation. Methods: Clinical evaluations, 12-lead ECG, CMR, and signal-averaged ECG were performed. After...
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BACKGROUND Frontotemporal degeneration (FTD) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by deficits in executive function that frequently overlaps with parkinsonism and motor neuron disorders. Several genes have been identified to cause autosomal dominant forms of FTD, including the gene coding for the protein associated with microtubule tau (MAPT). W...
متن کامل[SOD1-N196 mutation in a family with amyotrophic lateral sclerosis].
INTRODUCTION N19S mutation is produced by substitution in the 139 position of SOD1 and was described by Mayeux in a patient with amyotrophic lateral sclerosis (ALS). He suggested that it did not have a causal effect as it was found in asymptomatic and sporadic cases. Other authors in later articles did not agree. MATERIAL AND METHODS We describe a family with 4 members with ALS patients and a...
متن کاملRespiratory onset in an ALS family with L144F SOD1 mutation.
Familial amyotrophic lateral sclerosis (FALS) cases linked to SOD1 mutations may sometimes present with unusual clinical features such as pure lower motor neuron involvement or sensory signs. The authors describe a FALS pedigree with the L144F SOD1 mutation in which all cases had respiratory involvement as a first symptom. Although atypical clinical features are not rare in ALS families, this i...
متن کاملIntrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene.
BACKGROUND Most patients with Friedreich ataxia (FA) have a GAA trinucleotide repeat expansion in intron 1 of the FA gene (FRDA) on both arms of chromosome 9. However, some patients are compound heterozygotes and harbor a GAA expansion on one allele and a point mutation on the other. Compound heterozygous patients with FA who have a GAA expansion and a G130V mutation have been reported to have ...
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ژورنال
عنوان ژورنال: Amyotrophic Lateral Sclerosis
سال: 2012
ISSN: 1748-2968,1471-180X
DOI: 10.3109/17482968.2012.656311