A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies

I. Richard; N. Bourg; S. Marchand; O. Alibert; B. Eymard; A. J. van der Kooi; C. E. Jackson; C. Garcia; J. M. Burgunder; C. Legum; M. de Visser; M. Fardeau; J. S. Beckmann

doi:https://doi.org/10.1016/S0960-8966(99)00037-1

A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies

I. Richard, N. Bourg, S. Marchand, O. Alibert, B. Eymard, A. J. van der Kooi, C. E. Jackson, C. Garcia, J. M. Burgunder, C. Legum, M. de Visser, M. Fardeau, J. S. Beckmann

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5 Citations (Scopus)

Abstract

The autosomal progressive muscular dystrophies which are grouped together under the term limb girdle muscular dystrophies (LGMD) are diseases characterized by a progressive impairment of the proximal limb muscles and myopathic changes on electromyogram and muscle biopsy. Eight independent purely recessive genetic entities have been recognized in this group of diseases by genetic localization or causative gene identification. We have developed fluorescent genetic markers bracketing six of these loci (LGMD2A-LGMD2F). The marker loci were genotyped in 96 LGMD2 families leading to genetic definition of 25 of them either with a high likelihood or with a suggested localization (7 LGMD2A, 5 LGMD2B, 4 LGMD2C, 4 LGMD2D, 2 LGMD2E and 3 LGMD2F). In addition, 18 families were excluded for all six tested loci; for 45 of the 53 remaining families at least one exclusion could be demonstrated. This kit, which makes the rapid genetic testing of LGMD2 families possible, may be useful in a diagnostic process

Original language	English
Pages (from-to)	555-563
Journal	Neuromuscular disorders
Volume	9
Issue number	8
DOIs	https://doi.org/10.1016/S0960-8966(99)00037-1
Publication status	Published - 1999

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https://doi.org/10.1016/S0960-8966(99)00037-1

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@article{c8f6bd5ffb8d49f685a11831dec33de8,

title = "A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies",

abstract = "The autosomal progressive muscular dystrophies which are grouped together under the term limb girdle muscular dystrophies (LGMD) are diseases characterized by a progressive impairment of the proximal limb muscles and myopathic changes on electromyogram and muscle biopsy. Eight independent purely recessive genetic entities have been recognized in this group of diseases by genetic localization or causative gene identification. We have developed fluorescent genetic markers bracketing six of these loci (LGMD2A-LGMD2F). The marker loci were genotyped in 96 LGMD2 families leading to genetic definition of 25 of them either with a high likelihood or with a suggested localization (7 LGMD2A, 5 LGMD2B, 4 LGMD2C, 4 LGMD2D, 2 LGMD2E and 3 LGMD2F). In addition, 18 families were excluded for all six tested loci; for 45 of the 53 remaining families at least one exclusion could be demonstrated. This kit, which makes the rapid genetic testing of LGMD2 families possible, may be useful in a diagnostic process",

author = "I. Richard and N. Bourg and S. Marchand and O. Alibert and B. Eymard and {van der Kooi}, {A. J.} and Jackson, {C. E.} and C. Garcia and Burgunder, {J. M.} and C. Legum and {de Visser}, M. and M. Fardeau and Beckmann, {J. S.}",

year = "1999",

doi = "https://doi.org/10.1016/S0960-8966(99)00037-1",

language = "English",

volume = "9",

pages = "555--563",

journal = "Neuromuscular disorders",

issn = "0960-8966",

publisher = "Elsevier Limited",

number = "8",

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TY - JOUR

T1 - A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies

AU - Richard, I.

AU - Bourg, N.

AU - Marchand, S.

AU - Alibert, O.

AU - Eymard, B.

AU - van der Kooi, A. J.

AU - Jackson, C. E.

AU - Garcia, C.

AU - Burgunder, J. M.

AU - Legum, C.

AU - de Visser, M.

AU - Fardeau, M.

AU - Beckmann, J. S.

PY - 1999

Y1 - 1999

N2 - The autosomal progressive muscular dystrophies which are grouped together under the term limb girdle muscular dystrophies (LGMD) are diseases characterized by a progressive impairment of the proximal limb muscles and myopathic changes on electromyogram and muscle biopsy. Eight independent purely recessive genetic entities have been recognized in this group of diseases by genetic localization or causative gene identification. We have developed fluorescent genetic markers bracketing six of these loci (LGMD2A-LGMD2F). The marker loci were genotyped in 96 LGMD2 families leading to genetic definition of 25 of them either with a high likelihood or with a suggested localization (7 LGMD2A, 5 LGMD2B, 4 LGMD2C, 4 LGMD2D, 2 LGMD2E and 3 LGMD2F). In addition, 18 families were excluded for all six tested loci; for 45 of the 53 remaining families at least one exclusion could be demonstrated. This kit, which makes the rapid genetic testing of LGMD2 families possible, may be useful in a diagnostic process

AB - The autosomal progressive muscular dystrophies which are grouped together under the term limb girdle muscular dystrophies (LGMD) are diseases characterized by a progressive impairment of the proximal limb muscles and myopathic changes on electromyogram and muscle biopsy. Eight independent purely recessive genetic entities have been recognized in this group of diseases by genetic localization or causative gene identification. We have developed fluorescent genetic markers bracketing six of these loci (LGMD2A-LGMD2F). The marker loci were genotyped in 96 LGMD2 families leading to genetic definition of 25 of them either with a high likelihood or with a suggested localization (7 LGMD2A, 5 LGMD2B, 4 LGMD2C, 4 LGMD2D, 2 LGMD2E and 3 LGMD2F). In addition, 18 families were excluded for all six tested loci; for 45 of the 53 remaining families at least one exclusion could be demonstrated. This kit, which makes the rapid genetic testing of LGMD2 families possible, may be useful in a diagnostic process

U2 - https://doi.org/10.1016/S0960-8966(99)00037-1

DO - https://doi.org/10.1016/S0960-8966(99)00037-1

M3 - Article

C2 - 10619713

SN - 0960-8966

VL - 9

SP - 555

EP - 563

JO - Neuromuscular disorders

JF - Neuromuscular disorders

IS - 8

ER -