Abstract
Originalsprog | Engelsk |
---|---|
Tidsskrift | Archives of Neurology |
Vol/bind | 66 |
Udgave nummer | 3 |
Sider (fra-til) | 394-8 |
Antal sider | 4 |
ISSN | 0003-9942 |
DOI | |
Status | Udgivet - 2009 |
Bibliografisk note
Keywords: Adult; Aged; Creatine Kinase; Glycogen Storage Disease; Humans; Italy; Male; Pakistan; Phosphoglycerate MutaseAdgang til dokumentet
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Muscle phosphoglycerate mutase deficiency revisited. / Naini, Ali; Toscano, Antonio; Musumeci, Olimpia; Vissing, John; Akman, Hasan O; DiMauro, Salvatore.
I: Archives of Neurology, Bind 66, Nr. 3, 2009, s. 394-8.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
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TY - JOUR
T1 - Muscle phosphoglycerate mutase deficiency revisited
AU - Naini, Ali
AU - Toscano, Antonio
AU - Musumeci, Olimpia
AU - Vissing, John
AU - Akman, Hasan O
AU - DiMauro, Salvatore
N1 - Keywords: Adult; Aged; Creatine Kinase; Glycogen Storage Disease; Humans; Italy; Male; Pakistan; Phosphoglycerate Mutase
PY - 2009
Y1 - 2009
N2 - BACKGROUND: Phosphoglycerate mutase (PGAM) deficiency (glycogen storage disease type X) has been reported in 12 patients of whom 9 were African American. OBJECTIVE: To describe 2 patients, 1 of Pakistani and 1 of Italian ethnic origin, with typical clinical and biochemical changes of glycogen storage disease type X and novel mutations in the gene encoding the muscle subunit of PGAM (PGAM2). DESIGN: Clinical, pathological, biochemical, and molecular analyses. SETTING: Tertiary care university hospitals and academic institutions. Patients A 37-year-old Danish man of Pakistani origin who had exercise-related cramps and myoglobinuria and a 65-year-old Italian man who had exercise intolerance and myalgia but no pigmenturia and had undergone long-term statin therapy. MAIN OUTCOME MEASURES: Clinical course and biochemical and molecular features. RESULTS: Biochemical evidence showed severe isolated PGAM deficiency, and molecular studies revealed 2 novel homozygous mutations, a nonsense mutation and a single nucleotide deletion. Pathological studies of muscle showed mild glycogen accumulation but prominent tubular aggregates in both patients. CONCLUSIONS: We found that glycogen storage disease type X is not confined to the African American population, is often associated with sarcoplasmic reticulum (SR) proliferation, and is genetically heterogeneous.
AB - BACKGROUND: Phosphoglycerate mutase (PGAM) deficiency (glycogen storage disease type X) has been reported in 12 patients of whom 9 were African American. OBJECTIVE: To describe 2 patients, 1 of Pakistani and 1 of Italian ethnic origin, with typical clinical and biochemical changes of glycogen storage disease type X and novel mutations in the gene encoding the muscle subunit of PGAM (PGAM2). DESIGN: Clinical, pathological, biochemical, and molecular analyses. SETTING: Tertiary care university hospitals and academic institutions. Patients A 37-year-old Danish man of Pakistani origin who had exercise-related cramps and myoglobinuria and a 65-year-old Italian man who had exercise intolerance and myalgia but no pigmenturia and had undergone long-term statin therapy. MAIN OUTCOME MEASURES: Clinical course and biochemical and molecular features. RESULTS: Biochemical evidence showed severe isolated PGAM deficiency, and molecular studies revealed 2 novel homozygous mutations, a nonsense mutation and a single nucleotide deletion. Pathological studies of muscle showed mild glycogen accumulation but prominent tubular aggregates in both patients. CONCLUSIONS: We found that glycogen storage disease type X is not confined to the African American population, is often associated with sarcoplasmic reticulum (SR) proliferation, and is genetically heterogeneous.
U2 - 10.1001/archneurol.2008.584
DO - 10.1001/archneurol.2008.584
M3 - Journal article
C2 - 19273759
VL - 66
SP - 394
EP - 398
JO - JAMA Neurology
JF - JAMA Neurology
SN - 2168-6149
IS - 3
ER -