The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12–14, 2002 (Q57398182)

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15 December 2019

title

The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002 (English)

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15 December 2019

2

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15 December 2019

author name string

K M D Bushby

series ordinal

1

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publication date

1 January 2003

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15 December 2019

published in

Neuromuscular Disorders

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15 December 2019

volume

13

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15 December 2019

issue

1

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15 December 2019

page(s)

80-90

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Report on the 12th ENMC sponsored international workshop--the "limb-girdle" muscular dystrophies

15 December 2019

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66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands

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A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

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Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12

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Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

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Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy

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A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India

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Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

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Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

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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

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Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin

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

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7 January 2021

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

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Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

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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

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Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

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7 January 2021

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

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7 January 2021

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

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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

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7 January 2021

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene

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7 January 2021

A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3.

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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

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Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence

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7 January 2021

Muscle-specific RING finger-1 interacts with titin to regulate sarcomeric M-line and thick filament structure and may have nuclear functions via its interaction with glucocorticoid modulatory element binding protein-1

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7 January 2021

Members of the PIAS family act as SUMO ligases for c-Jun and p53 and repress p53 activity

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7 January 2021

10.1016/S0960-8966(02)00183-9

Identifiers

DOI

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15 December 2019

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