1.
Saha M, Reddy HM, Salih MA, et al. Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiol Genomics. 2018;50(11):929-939. doi:10.1152/physiolgenomics.00036.2018.
1.
Johnson K, Bertoli M, Phillips L, et al. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skelet Muscle. 2018;8(1):23. doi:10.1186/s13395-018-0170-1.
1.
Van den Bergh PYK, Sznajer Y, Van Parys V, et al. A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy. Neuromuscul Disord. 2017;27(11):1043-1046. doi:10.1016/j.nmd.2017.07.006.
1.
Johnson K, Topf A, Bertoli M, et al. Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. Orphanet J Rare Dis. 2017;12(1):173. doi:10.1186/s13023-017-0722-1.
1.
Østergaard ST, Johnson K, Stojkovic T, et al. Limb girdle muscular dystrophy due to mutations in . J Neurol Neurosurg Psychiatry. 2018;89(5):506-512. doi:10.1136/jnnp-2017-317018.
1.
Strang-Karlsson S, Johnson K, Topf A, et al. A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. Neuromuscul Disord. 2018;28(7):614-618. doi:10.1016/j.nmd.2018.04.012.
1.
Johnson K, De Ridder W, Topf A, et al. Extending the clinical and mutational spectrum of -related myopathies in a non-Hutterite population. J Neurol Neurosurg Psychiatry. 2019;90(4):490-493. doi:10.1136/jnnp-2018-318288.
1.
Cabrera-Serrano M, Ghaoui R, Ravenscroft G, et al. Expanding the phenotype of GMPPB mutations. Brain. 2015;138(Pt 4):836-44. doi:10.1093/brain/awv013.