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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
TLDR
The spectrum of LGMD2I phenotypes ranged from infants with an early presentation and a Duchenne-like disease course including cardiomyopathy, to milder phenotypes compatible with a favourable long-term outcome, and at least two possible haplotypes in linkage disequilibrium with this mutation.
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
TLDR
Using a positional cloning approach, the gene for a form of limb-girdle muscular dystrophy that was previously mapped to chromosome 2p13 (LGMD2B) is identified and the proposed name `dysferlin' combines the role of the gene in producing muscular Dystrophy with its C. elegans homology.
Dysferlin is a plasma membrane protein and is expressed early in human development.
TLDR
Analysis of human fetal tissue showed that dysferlin was expressed at the earliest stages of development examined, at Carnegie stage 15 or 16 (embryonic age 5-6 weeks).
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).
TLDR
The role for the dysferlin gene as being responsible for both LGMD2B and MM is emphasized, but that the distinction between these two clinical phenotypes requires the identification of additional factor(s), such as modifier gene(s).
ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation
TLDR
Retrospective clinical analysis corroborates the prevalently proximal lower limb phenotype, the male predominance and absence of major cardiac or respiratory involvement of anoctaminopathy, and identification of cases with isolated hyperCKaemia and very late symptomatic male and female subjects confirms the extension of the phenotypic spectrum of the disease.
Investigation of the role of polymorphisms at the alcohol and aldehyde dehydrogenase loci in genetic predisposition to alcohol‐related end‐organ damage
TLDR
Compared ADH2, ADH3 and ALDH2 allele frequencies in patients with alcohol‐related cirrhosis and chronic pancreatitis are compared with 79 local healthy control subjects to study genetically determined differences in ethanol metabolism.
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy
TLDR
It is confirmed that the dysferlin gene is mutated in MM and LGMD2B and understanding of the timing of onset of the disease is extended and knowledge of the genomic organization of the gene will facilitate mutation detection and investigations of the molecular biologic properties.
Dysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion
TLDR
The mechanism for Dysferlin-mediated repair of skeletal muscle sarcolemma is provided and acid sphingomyelinase (ASM) is identified as a potential therapy for dysferlinopathy.
Lack of Correlation between Outcomes of Membrane Repair Assay and Correction of Dystrophic Changes in Experimental Therapeutic Strategy in Dysferlinopathy
TLDR
It is shown using two different approaches that fullfiling membrane repair as asseyed by laser wounding assay is not sufficient for alleviating the dysferlin deficient pathology and that AAV-mediated transfer of a minidysferlin fails to improve muscle histology.
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