scholarly journals Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations

2017 ◽  
pp. 33-40 ◽  
Author(s):  
Corrado Angelini ◽  
Daniela Tavian ◽  
Sara Missaglia
Keyword(s):  
Gene Mutations ◽  
Lipid Storage ◽  
Lipid Storage Myopathy

scholarly journals Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations

2009 ◽  
Vol 81 (2) ◽  
pp. 231-236 ◽  
Author(s):  
B. Wen ◽  
T. Dai ◽  
W. Li ◽  
Y. Zhao ◽  
S. Liu ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Lipid Storage ◽  
Lipid Storage Myopathy

FP45-TH-06 Riboflavin responsive lipid storage myopathy caused by ETFDH gene mutations

2009 ◽  
Vol 285 ◽  
pp. S130
Author(s):  
C. Yan ◽  
B. Wen ◽  
T. Dai ◽  
W. Li ◽  
Y. Zhao ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Lipid Storage ◽  
Lipid Storage Myopathy

scholarly journals Successful Plasmapheresis and Immunoglobulin treatment for severe lipid storage myopathy: doing the right thing for the wrong reason

2021 ◽  
Author(s):  
Felix Kleefeld ◽  
Anja von Renesse ◽  
Carsten Dittmayer ◽  
Lutz Harms ◽  
Josefine Radke ◽  
...  
Keyword(s):  
Lipid Storage ◽  
Lipid Storage Myopathy ◽  
Wrong Reason ◽  
Immunoglobulin Treatment ◽  
The Right

LACTIC ACIDEMIA, HYPERALANEMIA AND CARNITINE ABNORMALITIES IN DOGS WITH LIPID STORAGE MYOPATHY

1995 ◽  
Vol 54 (3) ◽  
pp. 457 ◽  
Author(s):  
G D Shelton ◽  
R H Hass ◽  
B Holmes ◽  
L Mitchell ◽  
R Broock ◽  
...  
Keyword(s):  
Lipid Storage ◽  
Lipid Storage Myopathy ◽  
Lactic Acidemia

Primary carnitine deficiency: adult onset lipid storage myopathy with a mild clinical course

2004 ◽  
Vol 11 (8) ◽  
pp. 919-924 ◽  
Author(s):  
S. Vielhaber ◽  
H. Feistner ◽  
J. Weis ◽  
J. Kreuder ◽  
M. Sailer ◽  
...  
Keyword(s):  
Clinical Course ◽  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Adult Onset ◽  
Lipid Storage Myopathy ◽  
Primary Carnitine Deficiency

LIPID STORAGE MYOPATHY ASSOCIATED WITH LOW ACYL-COA DEHYDROGENASE ACTIVITIES

Brain ◽  
1988 ◽  
Vol 111 (4) ◽  
pp. 815-828 ◽  
Author(s):  
D. M. TURNBULL ◽  
I. M. SHEPHERD ◽  
B. ASHWORTH ◽  
K. BARTLETT ◽  
M. A. JOHNSON ◽  
...  
Keyword(s):  
Lipid Storage ◽  
Lipid Storage Myopathy

Short-Chain Acyl-CoA Dehydrogenase Deficiency Associated with a Lipid-Storage Myopathy and Secondary Carnitine Deficiency

1984 ◽  
Vol 311 (19) ◽  
pp. 1232-1236 ◽  
Author(s):  
Douglass M. Turnbull ◽  
Kim Bartlett ◽  
David L. Stevens ◽  
K. George M. M. Alberti ◽  
G. John Gibson ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Short Chain ◽  
Lipid Storage Myopathy ◽  
Chain Acyl

scholarly journals Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Yiming Zheng ◽  
Yawen Zhao ◽  
Wei Zhang ◽  
Zhaoxia Wang ◽  
Yun Yuan
Keyword(s):  
Elderly Patient ◽  
Muscle Weakness ◽  
Dehydrogenase Deficiency ◽  
Late Onset ◽  
Lipid Storage ◽  
Exercise Intolerance ◽  
Lipid Storage Myopathy ◽  
Case Presentation ◽  
Acylcarnitine Profile ◽  
Progressive Weakness

Abstract Background Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare and treatable inherited lipid storage myopathy. Here, we report an elderly patient with MADD mimicking myositis. Case presentation An 80-year-old woman had progressive weakness in her limbs, exercise intolerance, and no muscle pain for 3 months. The patient’s serum creatine kinase level was slightly elevated. The initial diagnosis was myositis. However, muscle biopsy showed many cytoplasmic vacuoles stained with oil red O, indicating the presence of lipid storage myopathy. The plasma acylcarnitine profile showed increased medium-chain and long-chain acylcarnitine species, consistent with the diagnosis of MADD. Riboflavin treatment dramatically improved muscle weakness. Conclusions MADD should be considered when evaluating elderly patients with subacute muscle weakness.

Lipid Storage Myopathy in Multiple Acyl-CoA Dehydrogenase Deficiency: An Adult Case

1992 ◽  
Vol 32 (3) ◽  
pp. 170-176 ◽  
Author(s):  
T. Mongini ◽  
C. Doriguzzi ◽  
L. Palmucci ◽  
A. De Francesco ◽  
L. Bet ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Lipid Storage ◽  
Adult Case ◽  
Lipid Storage Myopathy

A new lipid storage myopathy observed in individuals with the Ruvalcaba-Myhre-Smith syndrome

1984 ◽  
Vol 18 (1) ◽  
pp. 163-167 ◽  
Author(s):  
J. H. DiLiberti ◽  
A. N. D'Agostino ◽  
R. H. A. Ruvalcaba ◽  
J. R. Schimschock ◽  
John M. Opitz
Keyword(s):  
Lipid Storage ◽  
Lipid Storage Myopathy
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