A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Rumaisa Bashir, S. Britton, Tom Strachan, +15

Nature Genetics

SpermatogenesisDevelopmental BiologyGenetic DisorderDevelopmental GeneticsGenetics +8

Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

Véronique Bolduc, Gareth Marlow, Kym M. Boycott, +14

The American Journal of Human Genetics

ChannelopathiesMolecular PhysiologyCause Proximal Lgmd2lGeneticsPhysiology +6

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

Louise V.B. Anderson, Ruth M Harrison, Robert Pogue, +16

Neuromuscular Disorders

Miyoshi MyopathyCalpain 3Skeletal MusclePhysiologySecondary Reduction +1

Investigation of the role of polymorphisms at the alcohol and aldehyde dehydrogenase loci in genetic predisposition to alcohol-related end-organ damage

Christopher P. Day, Rumaisa Bashir, Oliver James, +5

Hepatology

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis piamentosa

Chris F. Inglehearn, T J Keen, Rumaisa Bashir, +5

Human Molecular Genetics

A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p

Chris F. Inglehearn, Simon Carter, TJeffrey Keen, +8

Nature Genetics

ChromatinMendelian DisorderCytogeneticsGenetic DisorderGenetics +7

Muscular dystrophy due to dysferlin deficiency in Libyan Jews

Zohar Argov, Menachem Sadeh, Kineret Mazor, +10

Brain

Lack of Correlation between Outcomes of Membrane Repair Assay and Correction of Dystrophic Changes in Experimental Therapeutic Strategy in Dysferlinopathy

William Lostal, Marc Bartoli, Carinne Roudaut, +10

PLoS ONE

<i>ANO5</i>Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

Anna Sárközy, Debbie Hicks, Judith A. Hudson, +60

Human Mutation

GeneticsGenetic EpidemiologyPathologyC.191dupa MutationMolecular Genetics +17

The Third Human FER-1-like Protein Is Highly Similar to Dysferlin

S. Britton, Tom C. Freeman, Elizabeth Vafiadaki, +4

Genomics

Protein ChemistryProtein FunctionBiochemistryProtein FoldingNatural Sciences +6