MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.
Joubert syndrome: Molecular basis and treatment.
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G.
J Mother Child. 2023 Feb 22;26(1):118-123. doi: 10.34763/jmotherandchild.20222601.d-22-00034. eCollection 2022 Mar 1.
Limb girdle muscular dystrophy due to mutations in POMT2.
Østergaard ST, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, Baets J, Claeys KG, Fernández-Torrón R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, Leturcq F, MacArthur DG, Lek M, Xu L, Nelson I, Straub V, Vissing J.
J Neurol Neurosurg Psychiatry. 2018 May;89(5):506-512. doi: 10.1136/jnnp-2017-317018. Epub 2017 Nov 24.
Cognitive Deficits in Myopathies.
Peristeri E, Aloizou AM, Keramida P, Tsouris Z, Siokas V, Mentis AA, Dardiotis E.
Int J Mol Sci. 2020 May 27;21(11):3795. doi: 10.3390/ijms21113795.
A case of delayed diagnosis of Becker muscular dystrophy due to underlying developmental disorders.
Oda S, Mori-Yoshimura M, Oya Y, Sato N, Nishino I, Takahashi Y.
Brain Dev. 2022 Mar;44(3):259-262. doi: 10.1016/j.braindev.2021.10.010. Epub 2021 Nov 12.
Phenytoin revisited.
Finkel MJ.
Clin Ther. 1984;6(5):577-91.
A molecular overview of the primary dystroglycanopathies.
Brancaccio A.
J Cell Mol Med. 2019 May;23(5):3058-3062. doi: 10.1111/jcmm.14218. Epub 2019 Mar 5.
Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis.
Pascual-Morena C, Cavero-Redondo I, Martínez-Vizcaíno V, Sequí-Domínguez I, Fernández-Bravo-Rodrigo J, Jiménez-López E.
J Neuromuscul Dis. 2023;10(2):159-172. doi: 10.3233/JND-221586.
Sleep disorders in myotonic dystrophies.
Subramony SH, Wymer JP, Pinto BS, Wang ET.
Muscle Nerve. 2020 Sep;62(3):309-320. doi: 10.1002/mus.26866. Epub 2020 Apr 10.
Duchenne muscular dystrophy.
Matsuo M.
Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:166-71.
Expanding the Phenotype of B3GALNT2-Related Disorders.
D'haenens E, Vergult S, Menten B, Dheedene A, Kooy RF, Callewaert B.
Genes (Basel). 2022 Apr 14;13(4):694. doi: 10.3390/genes13040694.
