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Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.
Akinci G, Alyaarubi S, Patni N, Alhashmi N, Al-Shidhani A, Prodam F, Gagne N, Babalola F, Al Senani A, Muniraj K, Elsayed SM, Beghini M, Saydam BO, Allawati M, Vaishnav MS, Can E, Simsir IY, Sorkina E, Dursun F, Kamrath C, Cavdar U, Chakraborty PP, Dogan OA, Al Hosin A, Al Maimani A, Comunoglu N, Hamed A, Huseinbegovic T, Scherer T, Curtis J, Brown RJ, Topaloglu H, Simha V, Wabitsch M, Tuysuz B, Oral EA, Akinci B, Garg A. Akinci G, et al. Am J Med Genet A. 2024 Jun;194(6):e63533. doi: 10.1002/ajmg.a.63533. Epub 2024 Jan 17. Am J Med Genet A. 2024. PMID: 38234231
Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. ...
Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type …
A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature.
Mancioppi V, Daffara T, Romanisio M, Ceccarini G, Pelosini C, Santini F, Bellone S, Mellone S, Baricich A, Rabbone I, Aimaretti G, Akinci B, Giordano M, Prodam F. Mancioppi V, et al. Front Endocrinol (Lausanne). 2023 Jul 12;14:1212729. doi: 10.3389/fendo.2023.1212729. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37501786 Free PMC article. Review.
Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and may have a genetic background. Congenital generalized lipodystrophy type 4 (CGL4) is an extremely rare subtype, caused by …
Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and may have a genet …
Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations.
Patni N, Vuitch F, Garg A. Patni N, et al. J Clin Endocrinol Metab. 2019 Mar 1;104(3):957-960. doi: 10.1210/jc.2018-01331. J Clin Endocrinol Metab. 2019. PMID: 30476128 Free PMC article.
CONTEXT: Congenital generalized lipodystrophy, type 4 (CGL4) is a rare autosomal recessive disorder caused by mutations in caveolae-associated protein 1. ...
CONTEXT: Congenital generalized lipodystrophy, type 4 (CGL4) is a rare autosomal recessive disorder cause …
Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood.
Murakami N, Hayashi YK, Oto Y, Shiraishi M, Itabashi H, Kudo K, Nishino I, Nonaka I, Nagai T. Murakami N, et al. Neuromuscul Disord. 2013 May;23(5):441-4. doi: 10.1016/j.nmd.2013.02.005. Epub 2013 Mar 13. Neuromuscul Disord. 2013. PMID: 23489663
A boy with congenital generalized lipodystrophy type 4 with muscular dystrophy presented in infancy with delay in motor milestones and a persistent elevation of CK. ...
A boy with congenital generalized lipodystrophy type 4 with muscular dystrophy presented in infancy with …
Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study.
Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, Altay C, Yaylali GF, Bilen H, Nur B, Demir L, Onay H, Akinci B. Akinci G, et al. Neuromuscul Disord. 2017 Oct;27(10):923-930. doi: 10.1016/j.nmd.2017.05.015. Epub 2017 Jun 1. Neuromuscul Disord. 2017. PMID: 28754454
All patients with congenital generalized lipodystrophy suffered from tight Achilles tendons at various levels. Scoliosis was observed in congenital generalized lipodystrophy type 4 (2/2) and familial partial lipodystrophy type 2 (2/17). Atlantoa …
All patients with congenital generalized lipodystrophy suffered from tight Achilles tendons at various levels. Scoliosis was observed in …
Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency.
Salle-Teyssières L, Auclair M, Terro F, Nemani M, Elsayed SM, Elsobky E, Lathrop M, Délépine M, Lascols O, Capeau J, Magré J, Vigouroux C. Salle-Teyssières L, et al. J Clin Endocrinol Metab. 2016 Jul;101(7):2892-904. doi: 10.1210/jc.2016-1086. Epub 2016 May 4. J Clin Endocrinol Metab. 2016. PMID: 27144934
CONTEXT: Mutations in PTRF encoding cavin-1 are responsible for congenital generalized lipodystrophy type 4 (CGL4) characterized by lipoatrophy, insulin resistance, dyslipidemia, and muscular dystrophy. ...
CONTEXT: Mutations in PTRF encoding cavin-1 are responsible for congenital generalized lipodystrophy type 4 …
Characteristic findings of skeletal muscle MRI in caveolinopathies.
Ishiguro K, Nakayama T, Yoshioka M, Murakami T, Kajino S, Shichiji M, Sato T, Hino-Fukuyo N, Kuru S, Osawa M, Nagata S, Okubo M, Murakami N, Hayashi YK, Nishino I, Ishigaki K. Ishiguro K, et al. Neuromuscul Disord. 2018 Oct;28(10):857-862. doi: 10.1016/j.nmd.2018.07.010. Epub 2018 Jul 31. Neuromuscul Disord. 2018. PMID: 30174172
Here we present characteristic skeletal muscle imaging findings in four patients with genetically defined childhood-onset RMD caused by CAV3 mutations and in one patient with congenital generalized lipodystrophy type 4 with muscular dystrophy du …
Here we present characteristic skeletal muscle imaging findings in four patients with genetically defined childhood-onset RMD caused by CAV3 …
Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy.
Ardissone A, Bragato C, Caffi L, Blasevich F, Maestrini S, Bianchi ML, Morandi L, Moroni I, Mora M. Ardissone A, et al. BMC Med Genet. 2013 Sep 11;14:89. doi: 10.1186/1471-2350-14-89. BMC Med Genet. 2013. PMID: 24024685 Free PMC article.
BACKGROUND: Mutations in the PTRF gene, coding for cavin-1, cause congenital generalized lipodystrophy type 4 (CGL4) associated with myopathy. ...
BACKGROUND: Mutations in the PTRF gene, coding for cavin-1, cause congenital generalized lipodystrophy type 4 …