Results 131 to 140 of about 10,564 (213)

Limb-girdle muscular dystrophy [PDF]

, 2020
openaire   +1 more source

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

Limb girdle muscular dystrophy 2A is a common variant secondary to mutations in the calpain 3 gene. A proportion of patients has early and severe contractures, which can cause diagnostic difficulties with other conditions.
Mercuri E, Bushby K, Birchall D, Angelini C, Saenz A, Nigro V, Muntoni F, Fulizio L, Ricci E, Pane M, Nascimbeni A, Allsop J, Kinali M   +12 more
core  

Trigger-Free Neuraxial Anaesthesia for Emergency Evacuation of Retained Products of Conception in Limb-Girdle Muscular Dystrophy: A Case Report and Literature Review. [PDF]

Cureus
AlAamer R, Alanzi A, Alatefi D, Alselaiti AA.   +3 more
europepmc   +1 more source

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy

The limb-girdle muscular dystrophies are a group of disorders with wide genetic and clinical heterogeneity. Recently, mutations in the ANO5 gene, which encodes a putative calcium-activated chloride channel belonging to the Anoctamin family of proteins ...
Koehler K, Bushby K, Muelas N, Eagle M, Huebner A, Barresi R, Roberts R, Bailey G, Lochmuller H, Chinnery PF, Miller J, Krause S, Radunovic A, Laval SH, Hudson G, Hughes PJ, Straub V, Polvikoski T, Hicks D, Sarkozy A, Walter MC   +20 more
core  

Rumination Swallowing in Limb-Girdle Muscular Dystrophy. [PDF]

Cureus
Hayashi K, Mitsuhashi S, Sato M, Nakaya Y, Suzuki A, Kobayashi Y.   +5 more
europepmc   +1 more source

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study. [PDF]

Ann Clin Transl Neurol
Hunn SM, Alfano LN, Jones A, Butler A, Lowes LP, Iammarino MA, Reash NF, Pietruszewski L, Sasidharan S, Currence M, Statland JM, Strahler T, Will R, Wicklund M, Dixon S, Augsburger R, Mozaffar T, Laubscher KM, Mockler SRH, Mathews KD, Stinson N, Leung DG, Stark MM, Horton RA, Kang PB, James MK, Clause A, Weihl CC, Johnson NE, GRASP‐LGMD Consortium.   +29 more
europepmc   +1 more source

Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy

Limb girdle muscular dystrophy is a group of clinically and genetically heterogeneous disorders inherited in an autosomal recessive or dominant mode. Caveolin-3, the muscle-specific member of the caveolin gene family, is implicated in the pathogenesis of
Straub V; Herrmann R; Blank M; Kutzick C; Franke N; Jacob EN; Lenard HG; Kroger S; Voit T
core  

The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy. [PDF]

Cells
Valls A, Ruiz-Roldán C, Immanuel J, Alonso-Martín S, Gallardo E, Fernández-Torrón R, Bonilla M, Lersundi A, Hernández-Laín A, Domínguez-González C, Vílchez JJ, Iruzubieta P, López de Munain A, Sáenz A.   +13 more
europepmc   +1 more source

Successful perinatal management in pregnant women with R9 limb-girdle muscular dystrophy and left ventricular ejection fraction of 27%: a case report. [PDF]

Front Med (Lausanne)
Xie W, Huang LC, Luo D, Kang L, Hu K, Liu X, Mei J.   +6 more
europepmc   +1 more source

High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2. [PDF]

J Cachexia Sarcopenia Muscle
White Z, Rufibach L, Dressman HG, Hilsden H, Cox D, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Diaz-Manera J, Pegoraro E, Mendell JR, Jain COS Consortium, Straub V, Bernatchez P.   +21 more
europepmc   +1 more source