Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation

2008 ◽  
Vol 18 (4) ◽  
pp. 291-298 ◽  
Author(s):  
Nicola Carboni ◽  
Marco Mura ◽  
Giovanni Marrosu ◽  
Eleonora Cocco ◽  
Mohammad Ahmad ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Lmna Gene ◽  
Mri Findings ◽  
Muscle Mri ◽  
Cardiac Phenotype

P75 Muscle MRI findings in LGMD2L

2011 ◽  
Vol 21 ◽  
pp. S28
Author(s):  
A. Sarkozy ◽  
P. Hicks ◽  
J. Miller ◽  
M.C. Walter ◽  
P. Reilich ◽  
...  
Keyword(s):  
Mri Findings ◽  
Muscle Mri

Muscle MRI findings of HTLV-1-associated myelopathy

2002 ◽  
Vol 199 (1-2) ◽  
pp. 45-48 ◽  
Author(s):  
Tadanori Hamano ◽  
Jiro Fujiyama ◽  
Yasutaka Kawamura ◽  
Mikio Hirayama ◽  
Keita Ito ◽  
...  
Keyword(s):  
Mri Findings ◽  
Muscle Mri

LMNA gene mutation search in Polish patients: new features of the heterozygous Arg482Gln mutation phenotype

Endocrine ◽  
2009 ◽  
Vol 36 (3) ◽  
pp. 518-523 ◽  
Author(s):  
Tomasz Klupa ◽  
Magdalena Szopa ◽  
Jan Skupien ◽  
Katarzyna Wojtyczek ◽  
Katarzyna Cyganek ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Lmna Gene ◽  
Mutation Search

Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement

2010 ◽  
Vol 41 (1) ◽  
pp. 85-91 ◽  
Author(s):  
Nicola Carboni ◽  
Maurizio Porcu ◽  
Marco Mura ◽  
Eleonora Cocco ◽  
Giovanni Marrosu ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Cardiac Involvement ◽  
Lmna Gene

Muscle MRI findings of X-linked spinal and bulbar muscular atrophy

2004 ◽  
Vol 222 (1-2) ◽  
pp. 93-97 ◽  
Author(s):  
Tadanori Hamano ◽  
Tatsuro Mutoh ◽  
Mikio Hirayama ◽  
Yasutaka Kawamura ◽  
Miwako Nagata ◽  
...  
Keyword(s):  
Muscular Atrophy ◽  
Mri Findings ◽  
Muscle Mri

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

2005 ◽  
Vol 15 (2) ◽  
pp. 164-171 ◽  
Author(s):  
Eugenio Mercuri ◽  
Kate Bushby ◽  
Enzo Ricci ◽  
Daniel Birchall ◽  
Marika Pane ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Mri Findings ◽  
Muscle Mri ◽  
Calpain 3

Skeletal Muscle Involvement in Wilson Disease: Clinical and Magnetic Resonance Imaging (MRI) Observations in 2 Families

2020 ◽  
Vol 36 (2) ◽  
pp. 99-104
Author(s):  
Sanjeev Kumar Bhoi ◽  
Suprava Naik ◽  
Menka Jha ◽  
Biswamohan Mishra ◽  
Nikhilesh Pradhan
Keyword(s):  
Magnetic Resonance Imaging ◽  
Wilson Disease ◽  
Calf Muscle ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Muscle Mri ◽  
Muscle Involvement ◽  
Magnetic Resonance Imaging Mri ◽  
Calf Pain ◽  
Skeletal Muscle Involvement

Objective: Skeletal muscle involvement in Wilson disease is rare. Calf muscle pain might be attributed as growing pain in children. We report calf muscle involvement in Wilson disease and describe the magnetic resonance imaging (MRI) findings of leg, differential diagnosis with literature review. Patients and Methods: Our observations describe calf muscle MRI abnormality in 5 cases of Wilson disease from 2 families. The clinical presentations were neurologic in 3, hepatic in 1, and asymptomatic in 1 patient. We systematically describe the clinical characteristics and their calf muscle MRI findings. Results: Three patients had bilateral calf pain and intermittent cramps. The pain was of mild to moderate intensity and managed symptomatically. Serum alkaline phosphatase, creatinine phosphokinase, and needle electromyography were normal. Turbo inversion recovery magnitude sequence MRI of calf muscle revealed hyperintensity in bilateral gastrocnemii muscles. These muscles appear hyperintense in diffusion-weighted imaging. Conclusion: The calf muscle involvement could be attributed to muscle edema due to copper-induced muscle toxicity mediated by inhibition of Na+/K+-ATPase on cellular membranes of fast-twitch gastrocnemii muscles which contain predominant type II myofiber. In Wilson disease patients with calf pain or cramps, muscle MRI may show nonspecific gastrocnemius hyperintensity. Further evaluation may give insight into its pathophysiology.

P3.53 Quantitative muscle MRI findings in three patients with adult-onset Pompe disease after a 24-month enzyme replacement therapy

2011 ◽  
Vol 21 (9-10) ◽  
pp. 698
Author(s):  
E. Salort-Campana ◽  
Y. Le Fur ◽  
S. Attarian ◽  
J.P. Mattéi ◽  
P.J. Cozzone ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Adult Onset ◽  
Mri Findings ◽  
Muscle Mri ◽  
Enzyme Replacement

A novelRSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin–Lowry syndrome

2006 ◽  
Vol 140A (12) ◽  
pp. 1274-1279 ◽  
Author(s):  
Yueying Wang ◽  
Jose E. Martinez ◽  
Glen L. Wilson ◽  
Xi-Yu He ◽  
Cathy M. Tuck-Muller ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Brain Mri ◽  
Mri Findings ◽  
Abnormal Brain

scholarly journals Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report

2017 ◽  
Vol 7 (2) ◽  
pp. 193-196 ◽  
Author(s):  
Yingyin Liang ◽  
Guidian Li ◽  
Songlin Chen ◽  
Rongxing He ◽  
Xiangxue  Zhou ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Mri Findings ◽  
Muscle Mri ◽  
One Year
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