Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation

[1]  J. Beckmann,et al.  The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12–14, 2002 , 2003, Neuromuscular Disorders.

[2]  Susan C. Brown,et al.  Functional requirements for fukutin-related protein in the Golgi apparatus. , 2002, Human molecular genetics.

[3]  Susan C. Brown,et al.  Defective glycosylation in muscular dystrophy , 2002, The Lancet.

[4]  C. Walsh,et al.  Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. , 2002, American journal of human genetics.

[5]  K. Campbell,et al.  Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies , 2002, Nature.

[6]  C. Greenberg,et al.  Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. , 2002, American journal of human genetics.

[7]  Susan C. Brown,et al.  The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I , 2002, Neuromuscular Disorders.

[8]  Susan C. Brown,et al.  Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. , 2001, American journal of human genetics.

[9]  Susan C. Brown,et al.  Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. , 2001, Human molecular genetics.

[10]  Alfonso Baldi,et al.  Identification of the gene that, when mutated, causes the human obesity syndrome BBS4 , 2001, Nature Genetics.

[11]  L. Peltonen,et al.  Secondary calpain3 deficiency in 2q-linked muscular dystrophy , 2001, Neurology.

[12]  M. Hamida,et al.  A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3 , 2000, Neuromuscular Disorders.

[13]  E. McNally,et al.  Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. , 2000, American journal of medical genetics.

[14]  G. Valle,et al.  Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin , 2000, Nature Genetics.

[15]  K. Bushby,et al.  Making sense of the limb-girdle muscular dystrophies. , 1999, Brain : a journal of neurology.

[16]  C. Greenberg,et al.  A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus. , 1998, American journal of human genetics.

[17]  M. Passos-Bueno,et al.  The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. , 1997, American journal of human genetics.

[18]  M. Passos-Bueno,et al.  Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene , 1996, Nature Genetics.

[19]  M. Passos-Bueno,et al.  Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. , 1996, Human molecular genetics.

[20]  L. Kunkel,et al.  Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy , 1995, Science.

[21]  J. Beckmann,et al.  β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12 , 1995, Nature Genetics.

[22]  L. Kunkel,et al.  β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex , 1995, Nature Genetics.

[23]  K. Campbell,et al.  A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. , 1995, Human molecular genetics.

[24]  Isabelle Richard,et al.  Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A , 1995, Cell.

[25]  L. Kunkel,et al.  Human adhalin is alternatively spliced and the gene is located on chromosome 17q21. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[26]  J. Beckmann,et al.  Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy , 1994, Cell.

[27]  K. Bushby,et al.  A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. , 1994, Human molecular genetics.

[28]  M. Pericak-Vance,et al.  Linkage of Tunisian autosomal recessive Duchenne–like muscular dystrophy to the pericentromeric region of chromosome 13q , 1992, Nature Genetics.

[29]  M. Passos-Bueno,et al.  Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. , 1996, Nature genetics.

[30]  J. Beckmann,et al.  A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. , 1991, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.