A new ATTR Phe64Ile mutation with late-onset multiorgan involvement

被引：1

作者：

Tarquini, Roberto ^{[1
]}

Perfetto, Federico ^{[1
]}

Bergesio, Franco ^{[2
]}

Miliani, Anna ^{[1
]}

Del Pace, Stefano ^{[3
]}

Frusconi, Sabrina ^{[4
]}

Minuti, Barbara ^{[4
]}

Pelo, Elisabetta ^{[4
]}

Torricelli, Francesca ^{[4
]}

机构：

[1] Azienda Univ Osped Careggi, Dept Internal Med, I-50143 Florence, Italy

[2] Azienda Univ Osped Careggi, Unita Nefrol, Florence, Italy

[3] Univ Florence, Dipartimento Area Crit Med Chirurg, I-50121 Florence, Italy

[4] Azienda Univ Osped Careggi, SOD Diagnost Genet, Florence, Italy

来源：

AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS | 2007年 / 14卷 / 04期

关键词：

amyloidosis; transthyretin; cardiomyopathy; polyneuropathy;

D O I：

10.1080/13506120701614172

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

We describe a novel transthyretin mutation in which phenylalanine is replaced with isoleucine in exon 3 at codon 64: Phe64Ile. The mutation was found in an isolated patient and it was not possible to perform a family study. The phenotype included heart and peripheral nerve involvement associated with a possible gastrointestinal and renal involvement.

引用

页码：289 / 292

页数：4

共 50 条

[1] A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement
Kaneda, D
Sugie, K
Yamamoto, A
Matsumoto, H
Kato, T
Nonaka, I
Nishino, I
NEUROLOGY, 2003, 61 (01) : 128 - 131
[2] Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis
Jacobson, DR
Pan, T
Kyle, RA
Buxbaum, JN
HUMAN MUTATION, 1997, 9 (01) : 83 - 85
[3] Late-onset Alexander disease: a novel mutation
Sangalli, D.
Ciammola, A.
Morelli, C.
Moroni, A.
Ceccherini, I.
Girotti, F.
Silani, V.
EUROPEAN JOURNAL OF NEUROLOGY, 2016, 23 : 837 - 837
[4] Neurological involvement in Ile68Leu (p.Ile88Leu) ATTR amyloidosis: not only a cardiogenic mutation
Pastorelli, Francesca
Fabbri, Gioele
Rapezzi, Claudio
Serenelli, Matteo
Plasmati, Rosaria
Vacchiano, Veria
Ferlini, Alessandra
Manfrini, Marco
Salvi, Fabrizio
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2021, 28 (03): : 173 - 181
[5] Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer's disease
Tedde, Andrea
Bartoli, Antonella
Piaceri, Irene
Ferrara, Sara
Bagnoli, Silvia
Serio, Antonio
Sorbi, Sandro
Nacmias, Benedetta
NEUROSCIENCE LETTERS, 2016, 610 : 150 - 153
[6] TRANSTHYRETIN AMYLOIDOSIS IN SOUTHERN ITALY POPULATION: DESCRIPTION OF A COHORT OF PATIENTS WITH PHE64LEU MUTATION AND LATE ONSET
Mazzeo, A.
Di Leo, R.
Russo, M.
Stancanelli, C.
Di Bella, G.
Minutoli, F.
Toscano, A.
Vita, G.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2009, 14 : 19 - 20
[7] Late-onset PANDAS syndrome with abdominal muscle involvement
Martinelli, P
Ambrosetto, G
Minguzzi, E
Battaglia, S
Rizzo, G
Scaglione, C
EUROPEAN NEUROLOGY, 2002, 48 (01) : 49 - 51
[8] TRANSTHYRETIN AMYLOIDOSIS IN SOUTHERN ITALY POPULATION: DESCRIPTION OF A COHORT OF PATIENTS WITH PHE64LEU MUTATION AND LATE ONSET
Mazzeo, A.
Di Leo, R.
Russo, M.
Stancanelli, C.
Minutoli, F.
Di Bella, G.
Vita, G.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2009, 14 : 98 - 99
[9] Late-Onset Acquired Generalized Lipodystrophy With Muscle Involvement
Llamas-Velasco, M.
Dauden, E.
Martinez-Penas, G.
Garcia-Diez, A.
ACTAS DERMO-SIFILIOGRAFICAS, 2012, 103 (08): : 729 - 732
[10] Transthyretin amyloidosis in Southern Italy population: description of a cohort of patients with Phe64Leu mutation and late onset
Di Leo, R.
Russo, M.
Stancanelli, C.
Minutoli, F.
Di Bella, G.
Vita, G.
Mazzeo, A.
EUROPEAN JOURNAL OF NEUROLOGY, 2009, 16 : 202 - 202

← 1 2 3 4 5 →