Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

Leroy ten Dam; Wendy S. Frankhuizen; Wim H. J. P. Linssen; Chiara S. Straathof; Erik H. Niks; Karin Faber; Annemarie Fock; Jan B. Kuks; Esther Brusse; Rene de Coo; Nicol Voermans; Aad Verrips; Jessica E. Hoogendijk; Ludo van Der Pol; Dineke Westra; Marianne de Visser; Anneke J. van der Kooi; Ieke Ginjaar

doi:10.1111/cge.13544

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

Leroy ten Dam^*, Wendy S. Frankhuizen, Wim H. J. P. Linssen, Chiara S. Straathof, Erik H. Niks, Karin Faber, Annemarie Fock, Jan B. Kuks, Esther Brusse, Rene de Coo, Nicol Voermans, Aad Verrips, Jessica E. Hoogendijk, Ludo van Der Pol, Dineke Westra, Marianne de Visser, Anneke J. van der Kooi, Ieke Ginjaar

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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Abstract

In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA diagnosis in the Netherlands and included if they carried two mutations in CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TRIM32, FKRP or ANO5 gene. DNA was screened by direct sequencing and multiplex ligand-dependent probe amplification (MLPA) analysis. A total of 244 patients was identified; 68 LGMDR1/LGMD2A patients with CAPN3 mutations (28%), 67 sarcoglycanopathy patients (LGMDR3-5/LGMD2C-E) (27%), 64 LGMDR12/LGMD2L and MMD3 patients with ANO5 mutations (26%), 25 LGMDR2/LGMD2B and MMD1 with DYSF mutations (10%), 21 LGMDR9/LGMD2I with FKRP mutations (9%) and one LGMDR8/LGMD2H patient with TRIM32 mutations (

Original language	English
Pages (from-to)	126-133
Number of pages	8
Journal	Clinical Genetics
Volume	96
Issue number	2
DOIs	https://doi.org/10.1111/cge.13544
Publication status	Published - Aug-2019

Keywords

limb-girdle muscular dystrophy
Miyoshi muscular dystrophy
neurology
neuromuscular disorders
ANOCTAMIN 5
DUTCH PATIENTS
FOLLOW-UP
PREVALENCE
MUTATIONS
DIAGNOSIS
COHORT
GUIDELINE
PHENOTYPE
FREQUENCY

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Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the NetherlandsFinal publisher's version, 996 KBLicence: Taverne

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ten Dam, L., Frankhuizen, W. S., Linssen, W. H. J. P., Straathof, C. S., Niks, E. H., Faber, K., Fock, A., Kuks, J. B., Brusse, E., de Coo, R., Voermans, N., Verrips, A., Hoogendijk, J. E., van Der Pol, L., Westra, D., de Visser, M., van der Kooi, A. J., & Ginjaar, I. (2019). Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. Clinical Genetics, 96(2), 126-133. https://doi.org/10.1111/cge.13544

@article{0ed0f04fce4e4b1ca48df368b07b2f4a,

title = "Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients",

abstract = "In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA diagnosis in the Netherlands and included if they carried two mutations in CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TRIM32, FKRP or ANO5 gene. DNA was screened by direct sequencing and multiplex ligand-dependent probe amplification (MLPA) analysis. A total of 244 patients was identified; 68 LGMDR1/LGMD2A patients with CAPN3 mutations (28%), 67 sarcoglycanopathy patients (LGMDR3-5/LGMD2C-E) (27%), 64 LGMDR12/LGMD2L and MMD3 patients with ANO5 mutations (26%), 25 LGMDR2/LGMD2B and MMD1 with DYSF mutations (10%), 21 LGMDR9/LGMD2I with FKRP mutations (9%) and one LGMDR8/LGMD2H patient with TRIM32 mutations (",

keywords = "limb-girdle muscular dystrophy, Miyoshi muscular dystrophy, neurology, neuromuscular disorders, ANOCTAMIN 5, DUTCH PATIENTS, FOLLOW-UP, PREVALENCE, MUTATIONS, DIAGNOSIS, COHORT, GUIDELINE, PHENOTYPE, FREQUENCY",

author = "{ten Dam}, Leroy and Frankhuizen, {Wendy S.} and Linssen, {Wim H. J. P.} and Straathof, {Chiara S.} and Niks, {Erik H.} and Karin Faber and Annemarie Fock and Kuks, {Jan B.} and Esther Brusse and {de Coo}, Rene and Nicol Voermans and Aad Verrips and Hoogendijk, {Jessica E.} and {van Der Pol}, Ludo and Dineke Westra and {de Visser}, Marianne and {van der Kooi}, {Anneke J.} and Ieke Ginjaar",

year = "2019",

month = aug,

doi = "10.1111/cge.13544",

language = "English",

volume = "96",

pages = "126--133",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley",

number = "2",

}

ten Dam, L, Frankhuizen, WS, Linssen, WHJP, Straathof, CS, Niks, EH, Faber, K, Fock, A, Kuks, JB, Brusse, E, de Coo, R, Voermans, N, Verrips, A, Hoogendijk, JE, van Der Pol, L, Westra, D, de Visser, M, van der Kooi, AJ & Ginjaar, I 2019, 'Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients', Clinical Genetics, vol. 96, no. 2, pp. 126-133. https://doi.org/10.1111/cge.13544

TY - JOUR

T1 - Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands

T2 - The clinical and molecular spectrum of 244 patients

AU - ten Dam, Leroy

AU - Frankhuizen, Wendy S.

AU - Linssen, Wim H. J. P.

AU - Straathof, Chiara S.

AU - Niks, Erik H.

AU - Faber, Karin

AU - Fock, Annemarie

AU - Kuks, Jan B.

AU - Brusse, Esther

AU - de Coo, Rene

AU - Voermans, Nicol

AU - Verrips, Aad

AU - Hoogendijk, Jessica E.

AU - van Der Pol, Ludo

AU - Westra, Dineke

AU - de Visser, Marianne

AU - van der Kooi, Anneke J.

AU - Ginjaar, Ieke

PY - 2019/8

Y1 - 2019/8

N2 - In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA diagnosis in the Netherlands and included if they carried two mutations in CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TRIM32, FKRP or ANO5 gene. DNA was screened by direct sequencing and multiplex ligand-dependent probe amplification (MLPA) analysis. A total of 244 patients was identified; 68 LGMDR1/LGMD2A patients with CAPN3 mutations (28%), 67 sarcoglycanopathy patients (LGMDR3-5/LGMD2C-E) (27%), 64 LGMDR12/LGMD2L and MMD3 patients with ANO5 mutations (26%), 25 LGMDR2/LGMD2B and MMD1 with DYSF mutations (10%), 21 LGMDR9/LGMD2I with FKRP mutations (9%) and one LGMDR8/LGMD2H patient with TRIM32 mutations (

AB - In this retrospective study, we conducted a clinico-genetic analysis of patients with autosomal recessive limb-girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA diagnosis in the Netherlands and included if they carried two mutations in CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TRIM32, FKRP or ANO5 gene. DNA was screened by direct sequencing and multiplex ligand-dependent probe amplification (MLPA) analysis. A total of 244 patients was identified; 68 LGMDR1/LGMD2A patients with CAPN3 mutations (28%), 67 sarcoglycanopathy patients (LGMDR3-5/LGMD2C-E) (27%), 64 LGMDR12/LGMD2L and MMD3 patients with ANO5 mutations (26%), 25 LGMDR2/LGMD2B and MMD1 with DYSF mutations (10%), 21 LGMDR9/LGMD2I with FKRP mutations (9%) and one LGMDR8/LGMD2H patient with TRIM32 mutations (

KW - limb-girdle muscular dystrophy

KW - Miyoshi muscular dystrophy

KW - neurology

KW - neuromuscular disorders

KW - ANOCTAMIN 5

KW - DUTCH PATIENTS

KW - FOLLOW-UP

KW - PREVALENCE

KW - MUTATIONS

KW - DIAGNOSIS

KW - COHORT

KW - GUIDELINE

KW - PHENOTYPE

KW - FREQUENCY

U2 - 10.1111/cge.13544

DO - 10.1111/cge.13544

M3 - Article

SN - 0009-9163

VL - 96

SP - 126

EP - 133

JO - Clinical Genetics

JF - Clinical Genetics

IS - 2

ER -

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

Abstract

Keywords

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