Current Issue January 2012, Vol. 22, No. 1

Issue Highlights

Distal myopathies – New genetic entities expand diagnostic challenge
January 2012(Vol. 22 | No. 1 | Pages 5-12)
Bjarne Udd

Amyloidosis and exercise intolerance in ANO5 muscular dystrophy
January 2012(Vol. 22 | No. 1 | Pages 13-15)
Margherita Milone, Teerin Liewluck, Thomas L. Winder, Paolo T. Pianosi

Relationships of thigh muscle contractile and non-contractile tissue with function, strength, and age in boys with Duchenne muscular dystrophy
January 2012(Vol. 22 | No. 1 | Pages 16-25)
Hiroshi Akima, Donovan Lott, Claudia Senesac, Jasjit Deol, Sean Germain, Ishu Arpan, Roxanna Bendixen, H. Lee Sweeney, Glenn Walter, Krista Vandenborne

When tubules aggregate
27 January 2012
Hans H. Goebel
Within muscle fibres, tubules appear as microtubules, transverse tubules, and different components of the sarcotubular system, the latter consisting of longitudinal tubules and lateral or terminal sac...
Cortical heterotopia in LGMD2I
24 January 2012
Dimitri Renard, Carla Fernandez, Celine Bouchet-Seraphin, Pierre Labauge
A 40-year-old man, with a history of one generalized non-febrile seizure at the age of 4years, presented with slowly progressive proximal muscle weakness in the four limbs since the age of 12years and...
Cardiac dysfunction and pathology in the dystrophin and utrophin-deficient mouse during development of dilated cardiomyopathy
24 January 2012
Ju Lan Chun, Robert O’Brien, Suzanne E. Berry
Abstract: Cardiac involvement in Duchenne muscular dystrophy is asymptomatic until function is severely affected. Little is known about its evolution, and few animal models are available to study pote...
Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy
24 January 2012
Juliana Gurgel-Giannetti, Edmar Zanotelli, Eralda Luiza de Castro Concentino, Osorio Abath Neto, João Bosco Pesquero, Umbertina Conti Reed, Mariz Vainzof
Abstract: X-linked myotubular myopathy due to mutations in the MTM1 gene is classically characterized by a severe neonatal phenotype and a typical muscle biopsy presenting globular and centrally locat...
Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy
20 January 2012
Young-Min Lim, InSong Koh, Young-Mi Park, Jae-Jung Kim, Dae-Seong Kim, Hyo-Jin Kim, Kyu-Heum Baik, Hye-Yeon Choi, Gap-Seok Yang, Eva Also-Rallo, Eduardo F. Tizzano, Josep Gamez, Kiejung Park, Han-Wook Yoo, Jong-Keuk Lee, Kwang-Kuk Kim
Abstract: Precise topographic localization, predominance in males mostly of Asian origin, and existence of some familial cases suggest a genetic background for monomelic amyotrophy. To identify suscep...

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Neuromuscular Disorders is published by Elsevier for the World Muscle Society.

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It shall be the Aims of the WMS:

to provide a multidisciplinary scientific forum to advance and disseminate knowledge in the neuromuscular field for the benefit of patients;
to stimulate, encourage and help to develop programs for professionals working in the neuromuscular field;
to encourage multidisciplinary collaboration;
to provide opportunities for young investigators in the neuromuscular field;
to promote the achievement of standards in clinical practice.

About Neuromuscular Disorders

This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies).

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