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Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum

Standard

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum. / Musumeci, Olimpia; Thieme, Andrea; Claeys, Kristl G; Wenninger, Stephan; Kley, Rudolf A; Kuhn, Marius; Lukacs, Zoltan; Deschauer, Marcus; Gaeta, Michele; Toscano, Antonio; Gläser, Dieter; Schoser, Benedikt.

in: NEUROMUSCULAR DISORD, Jahrgang 25, Nr. 9, 09.2015, S. 719-24.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Musumeci, O, Thieme, A, Claeys, KG, Wenninger, S, Kley, RA, Kuhn, M, Lukacs, Z, Deschauer, M, Gaeta, M, Toscano, A, Gläser, D & Schoser, B 2015, 'Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum', NEUROMUSCULAR DISORD, Jg. 25, Nr. 9, S. 719-24. https://doi.org/10.1016/j.nmd.2015.07.002

APA

Musumeci, O., Thieme, A., Claeys, K. G., Wenninger, S., Kley, R. A., Kuhn, M., Lukacs, Z., Deschauer, M., Gaeta, M., Toscano, A., Gläser, D., & Schoser, B. (2015). Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum. NEUROMUSCULAR DISORD, 25(9), 719-24. https://doi.org/10.1016/j.nmd.2015.07.002

Vancouver

Musumeci O, Thieme A, Claeys KG, Wenninger S, Kley RA, Kuhn M et al. Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum. NEUROMUSCULAR DISORD. 2015 Sep;25(9):719-24. https://doi.org/10.1016/j.nmd.2015.07.002

Bibtex

@article{fe5bcb890d6646ba8f41150b0c03f38e,
title = "Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum",
abstract = "Homozygosity for the common Caucasian splice site mutation c.-32-13T>G in intron 1 of the GAA gene is rather rare in Pompe patients. We report on the clinical, biochemical, morphological, muscle imaging, and genetic findings of six adult Pompe patients from five unrelated families with the c.-32-13T>G GAA gene mutation in homozygous state. All patients had decreased GAA activity and elevated creatine kinase levels. Five patients, aged between 43 and 61 years (median 53 years), initially presented with myalgia, hyperCKaemia, and/or exercise induced fatigue at an age of onset (12-55 years). All but one had proximal lower limb weakness combined with axial weakness and moderate respiratory insufficiency; the sixth patient presented with hyperCKaemia only. Muscle biopsies showed PAS-positive vacuolar myopathy with lysosomal changes and reduced GAA activity. Muscle MRI of lower limb muscles revealed a moderate adipose substitution of the gluteal muscles, biceps femoris and slight fatty infiltration of all thigh muscles. One MRI of the respiratory muscles revealed a diaphragmatic atrophy with unilateral diaphragm elevation. So, the common Caucasian, so called mild, splice site mutation c.-32-13T>G in intron 1 of the GAA gene in a homozygote status reflects the full adult Pompe disease phenotype severity spectrum.",
keywords = "Adult, Disease Progression, Female, Glycogen Storage Disease Type II, Homozygote, Humans, Male, Middle Aged, Muscle, Skeletal, Mutation, Phenotype, RNA Splice Sites, alpha-Glucosidases, Case Reports, Journal Article",
author = "Olimpia Musumeci and Andrea Thieme and Claeys, {Kristl G} and Stephan Wenninger and Kley, {Rudolf A} and Marius Kuhn and Zoltan Lukacs and Marcus Deschauer and Michele Gaeta and Antonio Toscano and Dieter Gl{\"a}ser and Benedikt Schoser",
note = "Copyright {\textcopyright} 2015 Elsevier B.V. All rights reserved.",
year = "2015",
month = sep,
doi = "10.1016/j.nmd.2015.07.002",
language = "English",
volume = "25",
pages = "719--24",
journal = "NEUROMUSCULAR DISORD",
issn = "0960-8966",
publisher = "Elsevier Limited",
number = "9",

}

RIS

TY - JOUR

T1 - Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum

AU - Musumeci, Olimpia

AU - Thieme, Andrea

AU - Claeys, Kristl G

AU - Wenninger, Stephan

AU - Kley, Rudolf A

AU - Kuhn, Marius

AU - Lukacs, Zoltan

AU - Deschauer, Marcus

AU - Gaeta, Michele

AU - Toscano, Antonio

AU - Gläser, Dieter

AU - Schoser, Benedikt

N1 - Copyright © 2015 Elsevier B.V. All rights reserved.

PY - 2015/9

Y1 - 2015/9

N2 - Homozygosity for the common Caucasian splice site mutation c.-32-13T>G in intron 1 of the GAA gene is rather rare in Pompe patients. We report on the clinical, biochemical, morphological, muscle imaging, and genetic findings of six adult Pompe patients from five unrelated families with the c.-32-13T>G GAA gene mutation in homozygous state. All patients had decreased GAA activity and elevated creatine kinase levels. Five patients, aged between 43 and 61 years (median 53 years), initially presented with myalgia, hyperCKaemia, and/or exercise induced fatigue at an age of onset (12-55 years). All but one had proximal lower limb weakness combined with axial weakness and moderate respiratory insufficiency; the sixth patient presented with hyperCKaemia only. Muscle biopsies showed PAS-positive vacuolar myopathy with lysosomal changes and reduced GAA activity. Muscle MRI of lower limb muscles revealed a moderate adipose substitution of the gluteal muscles, biceps femoris and slight fatty infiltration of all thigh muscles. One MRI of the respiratory muscles revealed a diaphragmatic atrophy with unilateral diaphragm elevation. So, the common Caucasian, so called mild, splice site mutation c.-32-13T>G in intron 1 of the GAA gene in a homozygote status reflects the full adult Pompe disease phenotype severity spectrum.

AB - Homozygosity for the common Caucasian splice site mutation c.-32-13T>G in intron 1 of the GAA gene is rather rare in Pompe patients. We report on the clinical, biochemical, morphological, muscle imaging, and genetic findings of six adult Pompe patients from five unrelated families with the c.-32-13T>G GAA gene mutation in homozygous state. All patients had decreased GAA activity and elevated creatine kinase levels. Five patients, aged between 43 and 61 years (median 53 years), initially presented with myalgia, hyperCKaemia, and/or exercise induced fatigue at an age of onset (12-55 years). All but one had proximal lower limb weakness combined with axial weakness and moderate respiratory insufficiency; the sixth patient presented with hyperCKaemia only. Muscle biopsies showed PAS-positive vacuolar myopathy with lysosomal changes and reduced GAA activity. Muscle MRI of lower limb muscles revealed a moderate adipose substitution of the gluteal muscles, biceps femoris and slight fatty infiltration of all thigh muscles. One MRI of the respiratory muscles revealed a diaphragmatic atrophy with unilateral diaphragm elevation. So, the common Caucasian, so called mild, splice site mutation c.-32-13T>G in intron 1 of the GAA gene in a homozygote status reflects the full adult Pompe disease phenotype severity spectrum.

KW - Adult

KW - Disease Progression

KW - Female

KW - Glycogen Storage Disease Type II

KW - Homozygote

KW - Humans

KW - Male

KW - Middle Aged

KW - Muscle, Skeletal

KW - Mutation

KW - Phenotype

KW - RNA Splice Sites

KW - alpha-Glucosidases

KW - Case Reports

KW - Journal Article

U2 - 10.1016/j.nmd.2015.07.002

DO - 10.1016/j.nmd.2015.07.002

M3 - SCORING: Journal article

C2 - 26231297

VL - 25

SP - 719

EP - 724

JO - NEUROMUSCULAR DISORD

JF - NEUROMUSCULAR DISORD

SN - 0960-8966

IS - 9

ER -