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Topf, A, Glumac, JN, Perić, S, Cassop-Thompson, M, Bertoli, M, Johnson, K, Phillips, L, MacArthur, D, Stojanović, VR, Straub, V.
P.81 A recessive TTN founder mutation causes a distal myopathy phenotype in a Serbian cohort.
Neuromuscular Disorders
26:
s113 -s114
2016
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Phillips, L, Töpf, A, Johnson, K, Bertoli, M, Xu, L, Lek, M, Claeys, K, Van den Bergh, P, Vissing, J, Colomer, J, et al.
P.261 Identification of sequence variants in eight genes associated with dystroglycanopathies using whole exome sequencing.
Neuromuscular Disorders
26:
s166
2016
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Van den Bergh, P, Sznajer, Y, Van Parijs, V, van Tol, W, Wevers, R, Lefeber, D, Xu, L, Lek, M, MacArthur, D, Xu, L, et al.
P.259 A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.
Neuromuscular Disorders
26:
s165 -s166
2016
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Reddy, HM, Hamed, SA, Lek, M, Mitsuhashi, S, Estrella, E, Jones, MD, Mahoney, LJ, Duncan, AR, Cho, K, Macarthur, DG, et al.
Homozygous nonsense mutation in SGCA is a common cause of limb‐girdle muscular dystrophy in Assiut, Egypt.
Muscle & Nerve
54(4)
:
690 -695
2016
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Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Lek, M, Xu, L, MacArthur, D, Straub, V.
P.243 The MYO-SEQ project: Application of exome sequencing technologies to 1000 patients affected by limb-girdle weakness of unknown origin.
Neuromuscular Disorders
26:
s161
2016
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