PMID: 9192266Jun 1, 1997Paper

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)

Journal of Medical Genetics
A CarriéM Jeanpierre

Abstract

Sarcoglycanopathies are a genetically heterogeneous group of autosomal recessive muscular dystrophies in which the primary defect may reside in any of the genes coding for the different partners of the sarcolemmal sarcoglycan (SG) complex: the alpha-SG (LGMD2D at 17q21.2), the beta-SG (LGMD2E at 4q12), the gamma-SG (LGMD2C at 13q12), and the delta-SG (LGMD2F at 5q33). We report a series of 20 new unrelated families with 14 different mutations in the alpha-SG gene. Along with the mutations that we previously reported this brings our cohort of patients with alpha-sarcoglycanopathy to a total of 31 unrelated patients, carrying 25 different mutations. The missense mutations reside in the extracellular domain of the protein. Five of 15 missense mutations, carried by unrelated subjects on different haplotype backgrounds and of widespread geographical origins, account for 58% of the mutated chromosomes, with a striking prevalence of the R77C substitution (32%). The severity of the disease varies strikingly and correlates at least in part with the amount of residual protein and the type of mutation. The recurrent R284C substitution is associated with a benign disease course.

References

Sep 20, 1991·Cell·J M Ervasti, K P Campbell
Mar 30, 1995·Nature·M Krawczak, D N Cooper
Oct 11, 1994·Proceedings of the National Academy of Sciences of the United States of America·E M McNallyL M Kunkel
Jan 1, 1995·Human Molecular Genetics·H WatkinsC E Seidman
May 1, 1996·Nature Genetics·C Sapienza

❮ Previous
Next ❯

Citations

Apr 16, 1999·Muscle & Nerve·P MelaciniC Angelini
Aug 19, 2004·Der Nervenarzt·J Finsterer
Feb 13, 2001·Neuromuscular Disorders : NMD·R PogueK M Bushby
May 23, 2001·Neuromuscular Disorders : NMD·R CaglianiG Scarlato
Jul 19, 2003·Neuromuscular Disorders : NMD·M FaninC Angelini
Aug 19, 2003·Neuromuscular Disorders : NMD·Mayana ZatzMariz Vainzof
May 1, 1999·Journal of Child Neurology·C G Bönnemann
Sep 29, 2009·Expert Reviews in Molecular Medicine·Dorianna Sandonà, Romeo Betto
Feb 21, 2008·European Journal of Human Genetics : EJHG·Madiha TrabelsiJamel Chelly
Oct 17, 2012·Proceedings of the National Academy of Sciences of the United States of America·Elisa M LaBeau-DiMennaErika R Geisbrecht
Dec 22, 2004·Human Gene Therapy·Norma B RomeroMichel Fardeau
Dec 15, 2010·The Neurologist·Laura BroglioMassimiliano Filosto
Mar 6, 2016·Journal of the Neurological Sciences·Wen-Chen LiangYuh-Jyh Jong
Dec 29, 1998·The Journal of Cell Biology·Y M ChanL M Kunkel
Nov 1, 2009·Expert Opinion on Medical Diagnostics·Carmen Navarro, Susana Teijeira
Sep 23, 1998·The Journal of Cell Biology·F DuclosK P Campbell
Mar 23, 2010·Neuromuscular Disorders : NMD·Claudia EscherDaniel Gygax
Oct 11, 2015·Neuromuscular Disorders : NMD·M TarnopolskyL Brady
Feb 27, 2016·Molecular Therapy : the Journal of the American Society of Gene Therapy·Soeren TuranMichele P Calos
Aug 16, 2014·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Dewayne Townsend
Nov 16, 2002·Neurologic Clinics·Kathryn R Wagner
Feb 7, 2008·Human Molecular Genetics·Marc BartoliIsabelle Richard
Jul 9, 2017·Journal of Neurogenetics·Afagh AlaviFatemeh Jazayeri
Mar 9, 1999·American Journal of Medical Genetics·M R Passos-BuenoM Zatz
Jan 13, 1999·Prenatal Diagnosis·P DinçerH Topaloğlu
Feb 19, 2000·Microscopy Research and Technique·S C WatkinsL Billington
Aug 4, 1999·Brain : a Journal of Neurology·K M Bushby
Feb 1, 2018·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Lily WuMark A Tarnopolsky
Feb 19, 2000·Microscopy Research and Technique·A A HackE M McNally
Oct 17, 2008·Physiological Reviews·Jennifer DavisJoseph M Metzger

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.